Publications

2024 - 2023 - 2022 - 2021 - 2020 - 2019 - 2018 - 2017 - 2016 - 2015 - 2014 - 2013 - 2012 - 2011 - 2010

 

2024 Publications

Iatrogenic Alzheimer’s disease in recipients of cadaveric pituitary-derived growth hormone
Gargi Banerjee, Simon F Farmer  , Harpreet Hyare, Zane Jaunmuktane  , Simon Mead, Natalie S Ryan, Jonathan M Schott, David J Werring, Peter Rudge, John Collinge
Nature Medicine : Published: 29 January 2024

Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6
Jones E, Hill E, Linehan J, Nazari T, Caulder A, Codner GF, Hutchison M, Mackenzie M, Farmer M, Coysh T, De Oliveira MW, Al-Doujaily H, Sandberg M, Viré E, Cunningham TJ, Asante EA, Brandner S, Collinge J, Mead S
Jan 2024 | Neurobiology of Disease | 190 | Elsevier BV

 

2023 Publications

Prion protein conversion at two distinct cellular sites precedes fibrillisation.
Ribes JM, Patel MP, Halim HA, Berretta A, Tooze SA, Klöhn PC.Nat Commun. 2023 Dec 15;14(1):8354. doi: 10.1038/s41467-023-43961-1.PMID: 38102121 Free PMC article.

Prion Propagation is Dependent on Key Amino Acids in Charge Cluster 2 within the Prion Protein.
Bhamra S, Arora P, Manka SW, Schmidt C, Brown C, Rayner MLD, Klöhn PC, Clarke AR, Collinge J, Jat PS.J Mol Biol. 2023 Feb 28;435(4):167925. doi: 10.1016/j.jmb.2022.167925. Epub 2022 Dec 16.PMID: 36535427

Clinical considerations in early-onset cerebral amyloid angiopathy
Banerjee G, Collinge J, Fox NC, Lashley T, Mead S, Schott JM, Werring DJ, Ryan NS.
Brain. 2023.  doi:10.1093/brain/awad193.

Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease.
Mok TH, Nihat A, Majbour N, Sequeira D, Holm-Mercer L, Coysh T, Darwent L, Batchelor M, Groveman BR, Orrù CD, Hughson AG, Heslegrave A, Laban R, Veleva E, Paterson RW, Keshavan A, Schott J, Swift IJ, Heller C, Rohrer JD, Gerhard A, Butler C, Rowe JB, Masellis M, Chapman M, Lunn MP, Bieschke J, Jackson GS, Zetterberg H, Caughey B, Rudge P, Collinge J, Mead S.
Brain. 2023. doi:10.1093/brain/awad101.

Loss of residues 119 - 136, including the first β-strand of human prion protein, generates an aggregation-competent partially "open" form.
Hosszu L, Sangar D, Batchelor M, Risse E, Hounslow AM, Collinge J, Waltho JP, Bieschke J.
J Mol Biol. 2023; Published online. doi:10.1016/j.jmb.2023.168158.

A structural basis for prion strain diversity
Szymon W. Manka, Adam Wenborn, Jemma Betts, Susan Joiner, Helen R. Saibil , John Collinge & Jonathan D. F. Wadsworth
Nature Chemical Biology

Prion Propagation is Dependent on Key Amino Acids in Charge Cluster 2 within the Prion Protein
Savroop Bhamra, Parineeta Arora, Szymon W. Manka, Christian Schmidt, Craig Brown, Melissa L. D. Rayner, Peter-Christian Klo ̈ hn, Anthony R. Clarke, John Collinge  and Parmjit S. Jat

Knockout of Sporadic Creutzfeldt-Jakob Disease Risk Gene Stx6 in Mice Extends Prion Disease Incubation Time
E Jones, E Hill, J Linehan, T Nazari, A Caulder, GF Codner, M Hutchison,

 

2022 Publications

Development of prognostic models for survival and care status in sporadic Creutzfeldt-Jakob disease
Nihat A, Ranson JM, Harris D, McNiven K, Mok T, Rudge P, Collinge J, Llewellyn DJ, Mead S. Brain Commun. 2022;4(4):fcac201. doi: 10.1093/braincomms/fcac201.

Epigenetic age acceleration is associated with oligodendrocyte proportions in MSA and control brain tissue.
Murthy M, Shireby G, Miki Y, Viré E, Lashley T, Warner TT, Mill J, Bettencourt C.Neuropathol Appl Neurobiol. 2022 Dec 21:e12872. doi: 10.1111/nan.12872. Online ahead of print.PMID: 36542090

VCP suppresses proteopathic seeding in neurons
J Zhu, S Pittman, D Dhavale, R French, JN Patterson, ...
Molecular neurodegeneration 17 (1), 1-25

Essential Components of Synthetic Infectious Prion Formation De Novo
K Jack, GS Jackson, J Bieschke
Biomolecules 12 (11), 1694

Trajectories of neurodegeneration and seed amplification biomarkers prior to disease onset in individuals at risk of prion disease
TH Mok, A Nihat, N Majbour, D Sequeira, L Holm-Mercer, T Coysh, ...
medRxiv

Loss of the first β-strand of human prion protein generates an aggregation-competent partially" open" form
LLP Hosszu, D Sangar, M Batchelor, E Risse, AM Hounslow, JP Waltho, ...
bioRxiv

Syntaxin 6 delays prion protein fibril formation and prolongs presence of toxic aggregation intermediates
D Sangar, K Jack, M Batchelor, B Mistry, J Bieschke
BioRxiv

Direct Observation of Competing Prion Protein Fibril Populations with Distinct Structures and Kinetics
Y Sun, K Jack, T Ercolani, D Sangar, LLP Hosszu, J Collinge, J Bieschke
bioRxiv

Gene expression and epigenetic markers of prion diseases.
Viré EA, Mead S.Cell Tissue Res. 2022 Mar 21. doi: 10.1007/s00441-022-03603-2. Online ahead of print.PMID: 35307791 Review.

Essential Components of Synthetic Infectious Prion Formation de novo.
Jack, K., Jackson, G.S. and Bieschke, J. (2022) Biomolecules 12, 1694. doi: 10.3390/biom12111694.

Overexpression of mouse prion protein in transgenic mice causes a non-transmissible spongiform encephalopathy.
Jackson, G.S., Linehan, J., Brandner, S., Asante, E.A., Wadsworth, J.D.F. and Collinge, J. (2022) Sci Rep. Oct 13;12(1):17198.

Trajectories of neurodegeneration and seed amplification biomarkers prior to disease onset in individuals at risk of prion disease.
Mok, T.H., Nihat, A., Majbour, N., Sequeira, D. Holm-Mercer, L., Coysh, T., Darwent, L., Batchelor, M., Groveman, B., Orru, C., Hughson, A., Heslegrave, A., Laban, R., Veleva, E., Paterson, R., Keshavan, A., Schott, J., Swift, I., Heller, C., Rohrer, J., Gerhard, A., Butler, C., Rowe, J., Masellis, M., Chapman, M., Lunn, M., Bieschke, J., Jackson, G.S., Zetterberg, H., Caughey, B., Rudge, P., Collinge, J. and Mead, S. (2022) MedRiv

DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt–Jakob disease
Fernando Guntoro, Emmanuelle Viré1, Chiara Giordani, Lee Darwent, Holger Hummerich, Jacqueline Linehan,  Katy Sinka, Zane Jaunmuktane, Sebastian Brandner,  John Collinge, Simon Mead
Acta Neuropathologica volume 144, pages785–787 (2022)

Prion strains viewed through the lens of cryo-EM.
Manka SW, Wenborn A, Collinge J, Wadsworth JDF.Cell Tissue Res. 2022 Aug 27. doi: 10.1007/s00441-022-03676-z. Online ahead of print.PMID: 36028585 Review.

2.7 Å cryo-EM structure of ex vivo RML prion fibrils.
Manka SW, Zhang W, Wenborn A, Betts J, Joiner S, Saibil HR, Collinge J, Wadsworth JDF.Nat Commun. 2022 Jul 13;13(1):4004. doi: 10.1038/s41467-022-30457-7.PMID: 35831275 Free PMC article.

Iatrogenic cerebral amyloid angiopathy: an emerging clinical phenomenon.
Banerjee G, Samra K, Adams ME, Jaunmuktane Z, Parry-Jones AR, Grieve J, Toma AK, Farmer SF, Sylvester R, Houlden H, Rudge P, Mead S, Brandner S, Schott JM, Collinge J, Werring DJ.J Neurol Neurosurg Psychiatry. 2022. doi:10.1136/jnnp-2022-328792.

The Frontotemporal Dementia Research In Jutland Association (FReJA) Consortium, Nielsen JE. Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival..
Roos P, Johannsen P, Lindquist SG, Brown JM, Waldemar G, Duno M, Nielsen TT, Budtz-Jørgensen E, Gydesen S, Holm IE, Collinge J, Isaacs AM,. Acta Neurologica Scandinavica. 2022. doi:10.1111/ane.13578

Development of novel clinical examination scales for the measurement of disease severity in Creutzfeldt-Jakob disease.
Nihat, A., Mok, T. H., Odd, H., Thompson, A. G. B., Caine, D., McNiven, K., . . . Mead, S. (2022).  JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. doi:10.1136/jnnp-2021-327722

Protein monoclonal antibody (PRN100) therapy for Creutzfeldt-Jakob disease: evaluation of a first-in-human treatment programme.
Mead S, Khalili-Shirazi A, Potter C, Mok T, Nihat A, Hyare H, Canning S, Schmidt C, Campbell T, Darwent L, Muirhead N, Ebsworth N, Hextall P, Wakeling M, Linehan J, Libri V, Williams B, Jaunmuktane Z, Brandner S, Rudge P, Collinge J. Prion Lancet Neurol. 2022; 21(4):342-54. doi:10.1016/s1474-4422(22)00082-5.

Assessing initial MRI reports for suspected CJD patients.
Jesuthasan A, Sequeira D, Hyare H, Odd H, Rudge P, Mok TH, Nihat A, Collinge J, Mead S. Journal of Neurology. 2022. doi:10.1007/s00415-022-11087-x.

A high-content neuronal cell imaging assay demonstrates inhibition of prion disease-associated neurotoxicity by an anti-prion protein antibody
Reilly M, Benilova I, Khalili-Shirazi A, Schmidt C, Ahmed P, Yip D, Jat P, Collinge J. . Nature.

Prion protein gene mutation detection using long-read Nanopore sequencing.
Kroll F, Dimitriadis A, Campbell T, Darwent L, Collinge J, Mead S, Vire ESci Rep-Uk. 2022; 12(1):8284. doi:10.1038/s41598-022-12130-7.

A structural basis for prion strain diversity.
Manka SW, Wenborn A, Betts J, Joiner S, Saibil HR, Collinge J, Wadsworth JDF. bioRxiv. 2022. doi:10.1101/2022.05.17.492259.

Estimation of the number of inherited prion disease mutation carriers in the UK.
Corbie R, Campbell T, Darwent L, Rudge P, Collinge J, Mead S. European Journal of Human Genetics. Epub 2022. doi:10.1038/s41431-022-01132-8.

Prevalence and Treatments of Movement Disorders in Prion Diseases: A Longitudinal Cohort Study.
Sequeira D, Nihat A, Mok T, Coysh T, Rudge P, Collinge J, Mead S.
Movement Disorders. 2022. doi:10.1002/mds.29152

 

2021 Publications

Safe laboratory management of prions and proteopathic seeds.
Mead, S., Evans, T. and the Advisory Committee for Dangerous Pathogens Transmissible Spongiform Encephalopathy Subgroup. (2021) Lancet Neurology. 20(12):981. doi: 10.1016/S1474-4422(21)00379-3.

Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases.
Mok, T.H., Nihat, A., Luk, C., Sequeira, D., Batchelor, M., Mead, S., Collinge, J., Jackson, G.S. (2021) Sci Rep. Mar 4;11(1):5231

Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases.
Thompson, A.G.B., Anastasiadis, P., Druyeh, R., Whitworth I, Nayak, A., Nihat, A., Mok, T.H., Rudge, P., Wadsworth, J.D.F., Rohrer, J., Schott, J.M., Heslegrave, A., Zetterberg, H., Collinge, J., Jackson, G.S., Mead, S. (2021) Mol Psychiatry. 26(10):5955-5966.

MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.
Bettencourt C, Miki Y, Piras IS, de Silva R, Foti SC, Talboom JS, Revesz T, Lashley T, Balazs R, Viré E, Warner TT, Huentelman MJ, Holton JL.
Neuropathol Appl Neurobiol. 2021 Aug;47(5):640-652. doi: 10.1111/nan.12688. Epub 2021 Jan 19.PMID: 33368549

The FReJA consortium. Cortical frontoparietal network dysfunction in CHMP2B-frontotemporal dementia.
Musaeus CS, Pedersen JS, Kjær TW, Johannsen P, Waldemar G, Haverberg MJN, Bacher T, Jørgen Erik Nielsen JE, Roo P,
Frontiers in aging neuroscience. 2021; 13:714220. doi:10.3389/fnagi.2021.714220.

Humanised transgenic mice are resistant to chronic wasting disease prions from Norwegian reindeer and moose.
Wadsworth JDF, Joiner S, Linehan JM, Jack K, Al-Doujaily H, Costa H, Ingold T, Taema M, Zhang F, Sandberg MK, Brandner S, Tran L, Vikøren T, Våge J, Madslien K, Ytrehus B, Benestad SL, Asante EA, Collinge J.
J. Infect. Dis. 2021. doi:10.1093/infdis/jiab033.

Prions of Vertebrates.
Wadsworth JDF, Collinge J. D Bamford, M Zuckerman, eds.
Encyclopedia of Virology. Vol 2. 4th ed. Elsevier Ltd, Oxford Academic Press, 2021; 707–13. doi:10.1016/B978-0-12-801238-3.02648-9

Brazilin Removes Toxic Alpha-Synuclein and Seeding Competent Assemblies from Parkinson Brain by Altering Conformational Equilibrium
Nahass GR, Sun Y, Xu Y, Batchelor M, Reilly M, Benilova I, Kedia N, Spehar K, Sobott F, Sessions RB, Caughey B, Radford SE, Jat PS, Collinge J, Bieschke J
J Mol Biol. 2021; 433(8):166878. doi:10.1016/j.jmb.2021.166878.

Mechanisms of Cellular Senescence: Cell Cycle Arrest and Senescence Associated Secretory Phenotype
Ruchi Kumari and Parmjit Jat
Front. Cell Dev. Biol., 29 March 2021 | https://doi.org/10.3389/fcell.2021.645593

Gene expression imputation across multiple tissue types provides insight into the genetic architecture of frontotemporal dementia and its clinical subtypes
LM Reus, B Pasaniuc, D Posthuma, T Boltz, R Ferrari, DG Hernandez, ...
Biological Psychiatry 89 (8), 825-835

Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases
Thompson, A. G. B., Anastasiadis, P., Druyeh, R., Whitworth, I., Nayak, A., Nihat, A., . . . Mead, S.
Molecular Psychiatry. doi:10.1038/s41380-021-01045-w

Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases.
Mok, T. H., Nihat, A., Luk, C., Sequeira, D., Batchelor, M., Mead, S., . . . Jackson, G. S.
Scientific Reports, 11(1), 5231. doi:10.1038/s41598-021-84527-9

Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia
KA Tsvetanov, S Gazzina, PS Jones, J van Swieten, B Borroni, ...
Alzheimer's & Dementia 17 (3), 500-514

Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease
P Hermann, B Appleby, JP Brandel, B Caughey, S Collins, ...
The Lancet Neurology 20 (3), 235-246

Cognitive decline heralds onset of symptomatic inherited prion disease
J Mole, S Mead, P Rudge, A Nihat, T Mok, J Collinge, D Caine
Brain 144 (3), 989-998

2020 Publications

Structural effects of the highly protective V127 polymorphism on human prion protein.
Hosszu, L.L.P., Conners, R., Sangar, D., Batchelor, M., Sawyer, E.B., Fisher, S., Cliff, M.J., Hounslow, A.M., McAuley, K., Brady, L.R., Jackson, G.S., Bieschke, J., Waltho, J.P. and Collinge, J. (2020) Commun Biol. 3(1):402.

Distinct responses of neurons and astrocytes to TDP-43 proteinopathy in amyotrophic lateral sclerosis
Smethurst P, Risse E, Tyzack GE, Mitchell JS, Taha DM, Chen YR, Newcombe J, Collinge J, Sidle K, Patani R.
Brain. 2020; 143: 430-40. doi:10.1093/brain/awz419

Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS.
Asante EA, Linehan JM, Tomlinson A, Jakubcova T, Hamdan S, Grimshaw A, Smidak M, Jeelani A, Nihat A, Mead S, Brandner S, Wadsworth JDF, Collinge J.
PLoS biology. 2020; 18: e3000725. doi:10.1371/journal.pbio.3000725

PrP is a central player in toxicity mediated by soluble aggregates of neurodegeneration-causing proteins.
Corbett GT, Wang Z, Hong W, Colom-Cadena M, Rose J, Liao M, Asfaw A, Hall TC, Ding L, DeSousa A, Frosch MP, Collinge J, Harris DA, Perkinton MS, Spires-Jones TL, Young-Pearse TL, Billinton A, Walsh DM.
Acta Neuropathol. 2020; 139: 503-26. doi:10.1007/s00401-019-02114-9

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E, Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D, Clarimón J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H.
Acta Neuropathol. 2020; 139: 959-62. doi:10.1007/s00401-019-02107-8

Structural effects of the highly protective V127 polymorphism on human prion protein.
Hosszu LLP, Conners R, Sangar D, Batchelor M, Sawyer EB, Fisher S, Cliff MJ, Hounslow AM, McAuley K, Leo Brady R, Jackson GS, Bieschke J, Waltho JP, Collinge
J. Commun Biol. 2020; 3(1):402. doi:10.1038/s42003-020-01126-6.

A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis.
Norsworthy PJ, Thompson AGB, Mok TH, Guntoro F, Dabin LD, Nihat A, Paterson RW, Schott JM, Collinge J, Mead S, Viré EA.  Nat Commun. 2020 Aug 7; 11(1):3960. doi:10.1038/s41467-020-17655-x.

Association of TDP‑43 proteinopathy, cerebral amyloid angiopathy, and Lewy bodies with cognitive impairment in individuals with or without Alzheimer’s disease neuropathology.
Thomas DX, Bajaj S, McRae‑McKee K, Hadjichrysanthou C, Anderson RM, Collinge J. Sci Rep. 2020; 10(1):14579. doi:10.1038/s41598-020-71305-2

Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt-Jakob disease.
Dabin L, Guntoro F, Campbell T, Bélicard T, Smith AR, Smith RG, Raybould R, Schott JM, Lunnon K, Sarkies P, Collinge J, Mead S, Viré E. Acta Neuropathol. 2020. doi:10.1007/s00401-020-02224-9 (Online ahead of print)

Highly infectious prions are not directly neurotoxic.
Benilova I, Reilly M, Terry C, Wenborn A, Schmidt C, Marinho AT, Risse E, Al-Doujailya H, Wiggins De Oliveira M, Sandberg MK, Wadsworth JDF, Jat PS, Collinge J. PNAS. Sept 2020.

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
Jones E, Hummerich H, Vire E, Uphill J, Dimitriadis A, Speedy H, Campbell T, Norsworthy P, Quinn L, Whitfield J, Linehan J, Jaunmuktane Z, Brandner S, Jat P, Nihat A, How Mok T, Ahmed P, Collins S, Stehmann C, Sarros S, Kovacs GG, Geschwind MD, Golubjatnikov A, Frontzek K, Budka H, Aguzzi A, Karamujic-Comic H, van der Lee SJ, Ibrahim-Verbaas CA, van Duijn CM, Sikorska B, Golanska E, Liberski PP, Calero M, Calero O, Sanchez-Juan P, Salas A, Martinon-Torres F, Bouaziz-Amar E, Haik S, Laplanche JL, Brandel JP, Amouyel P, Lambert JC, Parchi P, Bartoletti-Stella A, Capellari S, Poleggi A, Ladogana A, Pocchiari M, Aneli S, Matullo G, Knight R, Zafar S, Zerr I, Booth S, Coulthart MB, Jansen GH, Glisic K, Blevins J, Gambetti P, Safar J, Appleby B, Collinge J, Mead S Lancet Neurol. 2020; 19(10):840-48. doi:10.1016/S1474-4422(20)30273-8

Potential human transmission of amyloid beta pathology: surveillance and risks.
Lauwers E, Lalli G, Brandner S, Collinge J, Compernolle V, Duyckaerts C, Edgren G, Haik S, Hardy J, Helmy A, Ivinson AJ, Jaunmuktane Z, Jucker M, Knight R, Lemmens R, Lin IC, Love S, Mead S, Perry VH, Pickett J, Poppy G, Radford SE, Rousseau F, Routledge C, Schiavo G, Schymkowitz J, Selkoe DJ, Smith C, Thal DR, Theys T, Tiberghien P, van den Burg P, Vandekerckhove P, Walton C, Zaaijer HL, Zetterberg H, De Strooper B. Lancet Neurol. 2020; 19(10):872-78. doi:10.1016/S1474-4422(20)30238-6

Putaminal diffusion tensor imaging measures predict disease severity across human prion diseases.
Hyare H, De Vita E, Porter MC, Simpson I, Ridgway G, Lowe J, Thompson A, Carswell C, Ourselin S, Modat M, Dos Santos Canas L, Caine D, Fox Z, Rudge P, Collinge J, Mead S, Thornton JS. Brain Commun. 2020; 2(1):fcaa032. doi:10.1093/braincomms/fcaa032

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series
Koriath C, Kenny J, Adamson G, Druyeh R, Taylor W, Beck J, Quinn L, Mok TH, Dimitriadis A, Norsworthy P, Bass N, Carter J, Walker Z, Kipps C, Coulthard E, Polke JM, Bernal-Quiros M, Denning N, Thomas R, Raybould R, Williams J, Mummery CJ, Wild EJ, Houlden H, Tabrizi SJ, Rossor MN, Hummerich H, Warren JD, Rowe JB, Rohrer JD, Schott JM, Fox NC, Collinge J, Mead S. Mol Psychiatry. 2020 Dec;25(12):3399-3412. doi: 10.1038/s41380-018-0224-0. Epub 2018 Oct 2.

2019 Publications

Detection of TAR DNA-Binding Protein 43 (TDP-43) Oligomers as Initial Intermediates Species during Aggregate Formation
RL French, ZR Grese, DD Dhavale, AN Reed, N Kedia, PT Kotzbauer, ...
ANNALS OF NEUROLOGY 86, S58-S58

Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers
N Kedia, K Arhzaouy, SK Pittman, Y Sun, M Batchelor, CC Weihl, ...
Proceedings of the National Academy of Sciences 116 (34), 16835-16840

Detection of TAR DNA-binding protein 43 (TDP-43) oligomers as initial intermediate species during aggregate formation
RL French, ZR Grese, H Aligireddy, DD Dhavale, AN Reeb, N Kedia, ...
Journal of Biological Chemistry 294 (17), 6696-6709 

Long-Term Super-Resolution Imaging of Amyloid Structures Using Transient Binding of Thioflavin T
K Spehar, T Ding, Y Sun, N Kedia, J Lu, GR Nahass, MD Lew, J Bieschke
Optical Molecular Probes, Imaging and Drug Delivery, OW4D. 4

Long-term, super-resolution imaging of amyloid structures using transient amyloid binding microscopy
T Ding, K Spehar, J Bieschke, MD Lew
Single Molecule Spectroscopy and Superresolution Imaging XII 10884, 108840J 

Superresolution Imaging of Amyloid Structures over Extended Times using Transient Binding of Single Thioflavin T Molecules
K Spehar, T Ding, Y Sun, N Kedia, J Lu, GR Nahass, MD Lew, J Bieschke
Biophysical Journal 116 (3), 458a  

Brazilin Prevents Fibrillogenesis, Remodels Mature Fibrils, and Reduces Neuronal Toxicity of a-synuclein
G Nahass, Y Sun, N Kedia, M Reilly, M Batchelor, Y Xu, K Sehar, ...

Generation of c-MycER_TAM-transduced human late-adherent olfactory mucosa cells for potential regenerative applications
Santiago-Toledo G, Georgiou M, Dos Reis J, Roberton VH, Valinhas A, Wood RC, Phillips JB, Mason C, Li D, Li Y, Sinden JD, Choi D, Jat PS, Wall IB.
Sci Rep. 2019 Sep 13;9(1):13190. doi: 10.1038/s41598-019-49315-6.

Differential trafficking of albumin and IgG facilitated by the neonatal Fc receptor in podocytes in vitro and in vivo
Dylewski J, Dobrinskikh E, Lewis L, Tonsawan P, Miyazaki M, Jat PS, Blaine J.
PLoS One. 2019 Feb 27;14(2):e0209732. doi: 10.1371/journal.pone.0209732. eCollection 2019.

PrP-grafted antibodies bind certain amyloid β-protein aggregates, but do not prevent toxicity
Mengel D, Hong W, Corbett GT, Liu W, DeSousa A, Solforosi L, Fang C, Frosch MP, Collinge J, Harris DA, Walsh DM. Brain Res. 2019 May 1;1710:125-135. doi: 10.1016/j.brainres.2018.12.038.

Genetic factors in Mammalian Prion Diseases
Mead S, Lloyd S, Collinge J. Annu Rev Genet. 2019. 53:117–47. doi: 10.1146/annurev-genet-120213-092352.

Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process
Canas LS, Sudre CH, De Vita E, Nihat A, Mok TH, Slattery CF, Peterson RW, Foulkes AJM, Hyare H, Cardoso MJ, Thornton J, Schott JM, Barkhof F, Collinge J, Ourselin S, Mead S, Modat M. NeuroImage: Clinical. 24 (2019) 102051. doi: 10.1016/j.nicl.2019.102051. Epub 2019 Oct 25.

Familial Creutzfeldt-Jakob disease in an Indian kindred
Katrak SM, Pauranik A, Desai SB, Mead S, Beck J, Brandner S, Collinge J. Ann Indian Acad Neurol 2019 Oct-Dec;22(4):458-461. doi: 10.4103/aian.AIAN_214_19. Epub 2019 Oct 25.

A new cell model for Investigating Prion Strain Selection and Adaptation
Philiastides A, Ribes JM, Yip DC, Schmidt C, Benilova I, Klöhn PC.C.
Viruses. 2019 Sep 22;11(10). pii: E888. doi: 10.3390/v11100888.

Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease
Rudge P, Jaunmuktane Z, Hyare H, Ellis M, Koltzenburg M, Collinge J, Brandner S, Mead S
Brain. 2019 Jan 28. doi: 10.1093/brain/awy358

Structural features distinguishing infectious ex Vivo mammalian prions from non-infectious fibrillar assemblies generated in vitro
Terry C, Harniman RL, Sells J, Wenborn A, Joiner S, Saibil HR, Miles MJ, Collinge J, Wadsworth JDF Sci Rep. 2019 Jan 23;9(1):376. doi: 10.1038/s41598-018-36700-w.

Early‐onset Cerebral Amyloid Angiopathy Following Childhood Exposure to Cadaveric Dura
Banerjee G, Adams ME, Jaunmuktane Z, Alistair Lammie G, Turner B, Wani M, Sawhney IMS, Houlden H, Mead S, Brandner S, Werring DJ .
Ann Neurol. 2019 Feb;85(2):284-290. doi: 10.1002/ana.25407. Epub 2019 Jan 17.

Review: Clinical, genetic and neuroimaging features of frontotemporal dementia
Convery R, Mead S, Rohrer JD. Neuropathol Appl Neurobiol. 2019 Feb;45(1):6-18. doi: 10.1111/nan.12535.

ApoE4 lowers age at onset in patients with frontotemporal dementia and tauopathy independentof amyloid-β copathology.​​​​​​
Koriath C, Lashley T, Taylor W, Druyeh R, Dimitriadis A, Denning N, Williams J, Warren JD, Fox NC, Schott JM, Rowe JB, Collinge J, Rohrer JD, Mead S.
Alzheimers Dement (Amst). 2019 Mar 19;11:277-280. doi: 10.1016/j.dadm.2019.01.010. eCollection 2019 Dec.

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicatesAβ, tau, immunity and lipid processing
Kunkle BW, et al. Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28.

Genome-wide analyses as part of the international FTLD-TDP whole - genome sequencingconsortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD
Pottier C et al. Acta Neuropathol. 2019 Feb 9. doi: 10.1007/s00401-019-01962-9. [Epub ahead of print]

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia
Rittman T, Borchert R, Jones S, van Swieten J, Borroni B, Galimberti D, Masellis M, Tartaglia MC, Graff C, Tagliavini F, Frisoni GB, Laforce R Jr, Finger E, Mendonça A, Sorbi S, Rohrer JD, Rowe JB; Genetic Frontotemporal Dementia Initiative (GENFI). Neurobiol Aging. 2019 Jan 4;77:169-177. doi: 10.1016/j.neurobiolaging.2018.12.009. [Epub ahead of print

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia
Swarup V, Hinz FI, Rexach JE, Noguchi KI, Toyoshiba H, Oda A, Hirai K, Sarkar A, Seyfried NT, Cheng C, Haggarty SJ; International Frontotemporal Dementia Genomics Consortium, Grossman M, Van Deerlin VM, Trojanowski JQ, Lah JJ, Levey AI, Kondou S, Geschwind DH. Nat Med. 2019 Jan;25(1):152-164. doi: 10.1038/s41591-018-0223-3. Epub 2018 Dec 3

Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer'sdisease
Weston PSJ, Poole T, O'Connor A, Heslegrave A, Ryan NS, Liang Y, Druyeh R, Mead S, Blennow K, Schott JM, Frost C, Zetterberg H, Fox NC.
Alzheimers Res Ther. 2019 Feb 20;11(1):19. doi: 10.1186/s13195-019-0472-5.

Gene based Analysis in HRC Imputed Genome Wide Association Data Identifies Three Novel Genes for Alzheimer's Disease
Emily Baker, Rebecca Sims, Ganna Leonenko, Aura Frizzati, Janet Harwood, Detelina Grozeva, Genetic and Environmental Risk in Alzheimer's Disease (GERAD) Consortium, PERADESconsortium, IGAPconsortia, Kevin Morgan, Peter Passmore, Clive Holmes, John Powell, Carol Brayne, Michael Gill, Simon Mead, Reiner Heun, Paola Bossu,Gianfranco Spalletta, Alison Goate, Carlos Cruchaga, Cornelia vanDuijn, Wolfgang Maier, Alfredo Ramirez, Lesley Jones, John Hardy, Dobril Ivanov, Matthew Hill, Peter Holmans, Nicholas Allen, Paul Morgan, Julie Williams, Valentina Escott-Price doi: https://doi.org/10.1101/374876

Review: Fluid biomarkers in the human prion diseases
Thompson AGB, Mead SH. Mol Cell Neurosci. 2018 Dec 4. pii: S1044-7431(18)30341-5. doi: 10.1016/j.mcn.2018.12.003.

Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.
Weston PSJ, Poole T, O'Connor A, Heslegrave A, Ryan NS, Liang Y, Druyeh R, Mead S, Blennow K, Schott JM, Frost C, Zetterberg H, Fox NC
Alzheimers Res Ther. 2019 Feb 20;11(1):19. doi: 10.1186/s13195-019-0472-5.

The most problematic symptoms of prion disease - an analysis of carer experiences
Ford L, Rudge P, Robinson K, Collinge J, Gorham M, Mead S. Int Psychogeriatr. 2019; 31(8):1181-90. doi:10.1017/S1041610218001588.

Enteral feeding is associated with longer survival in the advanced stages of prion disease.
McNiven K, Nihat A, Mok TH, Tesfamichael S, O'Donnell V, Rudge P, Collinge J, Mead S. Brain Commun. 2019; 1(1):fcz012. doi:10.1093/braincomms/fcz012.

 

2018 Publications

Neurofilament light chain and tau concentrations are markedly increased in the serum of patients with sporadic Creutzfreldt-Jakob disease, and tau correlates with rate of disease progression.
Thompson, A.G.B., Luk, C., Heslegrave, A., Zetterberg, H., Mead, S.H., Collinge, J. and Jackson, G.S. (2018) Journal of Neurology, Neurosurgery & Psychiatry 89(9):955-961.

Cover Feature: Super‐resolution Imaging of Amyloid Structures over Extended Times by Using Transient Binding of Single Thioflavin T Molecules
K Spehar, T Ding, Y Sun, N Kedia, J Lu, GR Nahass, MD Lew, J Bieschke
ChemBioChem 19 (18), 1897-1897

Super‐resolution Imaging of Amyloid Structures over Extended Times by Using Transient Binding of Single Thioflavin T Molecules
K Spehar, T Ding, Y Sun, N Kedia, J Lu, GR Nahass, MD Lew, J Bieschke
ChemBioChem 19 (18), 1944-1948

Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS
Taskesen E, Mishra A, van der Sluis S, Ferrari R; International FTD-Genomics Consortium, Veldink JH, van Es MA, Smit AB, Posthuma D, Pijnenburg Y. Sci Rep. 2018 May 14;8(1):7789. doi: 10.1038/s41598-018-21308-x.

Inflammatory markers of CHMP2B-mediated frontotemporal dementia
Roos P, von Essen MR, Nielsen TT, Johannsen P, Stokholm J, Bie AS, Waldemar G, Simonsen AH, Heslegrave A, Zetterberg H; FReJA consortium, Sellebjerg F, Nielsen JE. J Neuroimmunol. 2018 Nov 15;324:136-142. doi: 10.1016/j.jneuroim.2018.08.009.  

Frontotemporal dementia causative CHMP2B impairs neurol endolysosomal traffick- rescue by TMEM106B knockdown
Clayton EL, Milioto C, Muralidharan B, Norona FE, Edgar JR, Soriano A, Jafar-Nejad P, Rigo F, Collinge J, Isaacs AM.  Brain. 2018 Dec 1;141(12):3428-3442. doi:10.1093/brain/awy284.

Transmission of amyloid-β protein pathology from cadaveric pituitary growth hormone.
Purro SA, Farrow MA, Linehan J, Nazari T, Thomas DX, Chen Z, Mengel D, Saito T, Saido T, Rudge P, Brandner S, Walsh DM, Collinge J. Nature. 2018 Dec;564(7736):415-419. doi: 10.1038/s41586-018-0790-y. Epub 2018 Dec 13.

Super-Resolution Imaging of Amyloid Structures over Extended Times Using Transient Binding of Single Thioflavin T Molecules.
Spehar K, Ding T, Sun Y, Kedia N, Lu J, Nahass GR, Lew MD, Bieschke J. 2018, Chembiochem. 19, 1944-1948.

Evaluating the causality of novel sequence variants in the prion protein gene by example.
Mok TH, Koriath C, Jaunmuktane Z, Campbell T, Joiner S, Wadsworth JDF, Hosszu LLP, Brandner S, Parvez A, Truelsen TC, Lund EL, Saha R,  Collinge J, Mead S
Neurobiol Aging. 2018 May 15. pii: S0197-4580(18)30167-2. doi: 10.1016/j.neurobiolaging.2018.05.011. [Epub ahead of print]

Experimental sheep BSE prions generate the vCJD phenotype when serially passaged in transgenic mice expressing human prion protein 
Joiner, S., Asante, EA, Linehan, J.M., Brock, L., Brandner, S., Bellworthy, S.J., Simmons, M.M., Hope, J., Collinge, J. and Wadsworth, J.D.F. (2018) J. Neurol. Sci. 386, 4-11.

Neurofilament light chain and tau concentrations are markedly increased in the serum of patients with sporadic Creutzfeldt-Jakob disease, and tau correlates with rate of disease progression. 
Thompson AGB, Luk C, Heslegrave AJ, Zetterberg H, Mead SH, Collinge J, Jackson GS J Neurol Neurosurg Psychiatry. 2018 Feb 27.

Prion Protein as a Toxic Acceptor of Amyloid-β Oligomers.
Purro SA, Nicoll AJ, Collinge J.
Biol Psychiatry.2018 Feb 15;83(4):358-368. doi: 10.1016/j.biopsych.2017.11.020.
Epub 2017 Nov 21.

The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature.
Caine D, Nihat A, Crabb P, Rudge P, Cipolotti L, Collinge J, Mead S.
PLoS One. 2018 Jan 5;13(1):e0190818. doi: 10.1371/journal.pone.0190818. eCollection 2018

Analysis of shared heritability in common disorders of the brain
Anttila, V., et al. Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757.

CXCR4 involvement in neurodegenerative diseases
Bonham LW, Karch CM, Fan CC, Tan C, Geier EG, Wang Y, Wen N, Broce IJ, Li Y, Barkovich MJ, Ferrari R, Hardy J, Momeni P, Höglinger G, Müller U, Hess CP, Sugrue LP, Dillon WP, Schellenberg GD, Miller BL, Andreassen OA, Dale AM, Barkovich AJ, Yokoyama JS, Desikan RS; International FTD-Genomics Consortium (IFGC); International Parkinson’s Disease Genetics Consortium (IPDGC); International Genomics of Alzheimer’s Project (IGAP).
Transl Psychiatry. 2018 Apr 11;8(1):73. doi: 10.1038/s41398-017-0049-7.

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
Broce I, Karch CM, Wen N, Fan CC, Wang Y, Tan CH, Kouri N, Ross OA, Höglinger GU, Muller U, Hardy J; International FTD-Genomics Consortium, Momeni P, Hess CP, Dillon WP, Miller ZA, Bonham LW, Rabinovici GD, Rosen HJ, Schellenberg GD, Franke A, Karlsen TH, Veldink JH, Ferrari R, Yokoyama JS, Miller BL, Andreassen OA, Dale AM, Desikan RS, Sugrue LP. PLoS Med. 2018 Jan 9;15(1):e1002487. doi: 10.1371/journal.pmed.1002487. eCollection 2018 Jan.

Imaging biomarkers for the diagnosis of Prion disease
Liane S. Canas, Benjamin Yvernault, Carole Sudre, Enrico De Vita, M. Jorge Cardoso, John Thornton, Frederik Barkhof, Sébastien Ourselin, Simon Mead, Marc Modat

Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFIstudy
Cash DM, Bocchetta M, Thomas DL, Dick KM, van Swieten JC, Borroni B, Galimberti D, Masellis M, Tartaglia MC, Rowe JB, Graff C, Tagliavini F, Frisoni GB, Laforce R Jr, Finger E, de Mendonça A, Sorbi S, Rossor MN, Ourselin S, Rohrer JD; Genetic FTD Initiative, GENFI.
Neurobiol Aging. 2018 Feb;62:191-196. doi: 10.1016/j.neurobiolaging.2017.10.008. Epub 2017 Oct 19.

The behavioural variant frontotemporal dementia phenocopy syndrome is a distinct entity - evidence from a longitudinal study
Devenney E, Swinn T, Mioshi E, Hornberger M, Dawson KE, Mead S, Rowe JB, Hodges JR
BMC Neurol. 2018 Apr 28;18(1):56. doi: 10.1186/s12883-018-1060-1.

Plasma tau is increased in frontotemporal dementia
Foiani MS^, Woollacott IO, Heller C, Bocchetta M, Heslegrave A, Dick KM, Russell LL, Marshall CR, Mead S, Schott JM, Fox NC, Warren JD, Zetterberg H, Rohrer JD
J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):804-807. doi: 10.1136/jnnp-2017-317260. Epub 2018 Feb 13.

Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales
Fumagalli GG, Basilico P, Arighi A, Bocchetta M, Dick K⁶, Cash DM, Harding S, Mercurio M, Fenoglio C, Pietroboni AM, Ghezzi L, van Swieten J, Borroni B, de Mendonça A, Masellis M, Tartaglia MC, Rowe JB, Graff C, Tagliavini F, Frisoni GB¹, Laforce R Jr⁷, Finger E, Sorbi S, Scarpini E, Rohrer JDGalimberti D; Genetic FTD Initiative (GENFI)
Alzheimers Res Ther. 2018 May 24;10(1):46. doi: 10.1186/s13195-018-0376-9.

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study
Galimberti D, Fumagalli GG, Fenoglio C, Cioffi SMG, Arighi A, Serpente M, Borroni B, Padovani A, Tagliavini F, Masellis M, Tartaglia MC, van Swieten J, Meeter L, Graff C, de Mendonça A, Bocchetta M, Rohrer JD, Scarpini E; Genetic FTD Initiative (GENFI).
Neurobiol Aging. 2018 Feb;62:245.e9-245.e12. doi: 10.1016/j.neurobiolaging.2017.10.016. Epub 2017 Nov 13

Evidence of amyloid-β cerebral amyloid angiopathy transmission through neurosurgery
Jaunmuktane Z, Quaegebeur A, Taipa R, Viana-Baptista M, Barbosa ⁴, Koriath C, Sciot R, Mead S, Brandner S.
Acta Neuropathol. 2018 May;135(5):671-679. doi: 10.1007/s00401-018-1822-2. Epub 2018 Feb 15

STOP-GAIN VARIANT IN MICROGLIA-EXPRESSED GENE GMIP IS ASSOCIATED WITH EARLY-ONSET ALZHEIMER’S DISEASE
Raiyan R. Khan, et al.

Clinical Trials - Mead, S. and F. Tagliavini (2018). Handbook of Clinical Neurology 153: 431-444.

Age of onset in genetic prion disease and the design of preventive clinical trials.
Minikel, E. V., et al. (2018). BioRxiv: 401406.

Detection of Creutzfeldt-Jakob disease prions in skin: implications for healthcare
Nihat A, Mead S.Genome Med. 2018 Mar 26;10(1):22. doi: 10.1186/s13073-018-0536-3.

SERUM NEUROFILAMENT LIGHT CONCENTRATION AND PROGRESSION IN FAMILIAL ALZHEIMER’S DISEASE
O'Connor, A., et al. (2018). Alzheimer's & Dementia: The Journal of the Alzheimer's Association 14(7): P1174-P1175.

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease.
Peloso GM, van der Lee SJ; International Genomics of Alzheimer's Project (IGAP), Destefano AL, Seshardi S.
Alzheimers Dement (Amst). 2018 Sep 22;10:595-598. doi: 10.1016/j.dadm.2018.08.008. eCollection 2018.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier, C., et al. (2018).  The Lancet Neurology 17(6): 548-558.

Reply to: Intrinsic Toxicity of Antibodies to the Globular Domain of the Prion Protein
Purro SA, Mead S, Khalili-Shirazi A, Nicoll AJ, Collinge J.
Biol Psychiatry. 2018 Oct 1;84(7):e53-e54. doi: 10.1016/j.biopsych.2018.04.002. Epub 2018 Apr 12.

Imaging and CSF analyses effectively distinguish CJD from its mimics.
Rudge P, Hyare H, Green A, Collinge J, Mead S.
J Neurol Neurosurg Psychiatry. 2018 May;89(5):461-466. doi: 10.1136/jnnp-2017-316853. Epub 2017 Nov 15.

Distinct Neuroanatomical Correlates of Neuropsychiatric Symptoms in the Three Main Forms of Genetic Frontotemporal Dementia in the GENFI Cohort.
Sellami L, Bocchetta M, Masellis M, Cash DM, Dick KM, van Swieten J, Borroni B, Galimberti D, Tartaglia MC, Rowe JB, Graff C, Tagliavini F, Frisoni G, Finger E, de Mendonça A, Sorbi S¹, Warren JD, Rohrer JD, Laforce R; Genetic FTD Initiative, GENFI.
J Alzheimers Dis. 2018;65(1):147-163. doi: 10.3233/JAD-180053

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference.
Young AL, Marinescu RV, Oxtoby NP, Bocchetta M, Yong K, Firth NC, Cash DM, Thomas DL, Dick KM, Cardoso J, van Swieten J Borroni B, Galimberti D, Masellis M, Tartaglia MC, Rowe JB, Graff C, Tagliavini F, Frisoni GB, Laforce R Jr, Finger E, de Mendonça A, Sorbi S, Warren JD Crutch S, Fox NC, Ourselin S, Schott JM, Rohrer JD, Alexander DC; Genetic FTD Initiative (GENFI); Alzheimer’s Disease Neuroimaging Initiative (ADNI)
Nat Commun. 2018 Oct 15;9(1):4273. doi: 10.1038/s41467-018-05892-0.

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. 
Zhang, M., et al. (2018). Brain 141(10): 2895-2907.

The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature 
Caine D, Nihat A, Crabb P, Rudge P, Cipolotti L, Collinge J, Mead S. PLoS One. 2018 Jan 5;13(1):e0190818. doi: 10.1371/journal.pone.0190818. eCollection 2018.

 

2016 Publications

Mammalian prions and their wider relevance in neurodegenerative diseases 
Collinge J. Nature. 2016 Nov 10; 539(7628):217-226. doi: 10.1038/nature20415.  

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases. 
Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB; International FTD-Genomics Consortium (IFGC); International Parkinson's Disease Genomics Consortium (IPDGC),; International Genomics of Alzheimer's Project (IGAP),, Momeni P, Schellenberg GD, Dillon WP, Sugrue LP, Hess CP, Yokoyama JS, Bonham LW, Rabinovici GD, Miller BL, Andreassen OA, Dale AM, Hardy J, Desikan RS. . J Neurol Neurosurg Psychiatry. 2017 Feb; 88(2):152-164. doi: 10.1136/jnnp-2016-314411. Epub 2016 Nov 29.

Evolution of Diffusion-Weighted Magnetic Resonance Imaging Signal Abnormality in Sporadic Creutzfeldt-Jakob Disease, With Histopathological Correlation.
Eisenmenger L, Porter MC, Carswell CJ, Thompson A, Mead S, Rudge P, Collinge J, Brandner S, Jäger HR, Hyare H.

Dementia and Cognitive Impairment
M Rossor, J Collinge, N Fox, S Mead, C Mummery, J Rohrer, J Schott, Neurology: A Queen Square Textbook, 289-336

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
Samir Abdelkarim, Sarah Morgan, Vincent Plagnol, Ching-Hua Lu, Gary Adamson, Robin Howard, Andrea Malaspina, Richard Orrell, Nikhil Sharma, Katie Sidle, Jan Clarke, Nick C. Fox, Martin N. Rossor, Jason D. Warren, Camilla N. Clark, Jonathan D. Rohrer, Elizabeth M. C. Fisher, Simon Mead, Alan Pittman, Pietro FrattaBrain 139 (2), e9-e9 5

Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes
Coyle-Gilchrist IT, Dick KM, Patterson K, Vázquez Rodríquez P, Wehmann E, Wilcox A, Lansdall CJ, Dawson KE, Wiggins J, Mead S, Brayne C, Rowe JB. Neurology 86 (18), 1736-1743

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia
Jonathan D Rohrer, Ione OC Woollacott, Katrina M Dick, Emilie Brotherhood, Elizabeth Gordon, Alexander Fellows, Jamie Toombs, Ronald Druyeh, M Jorge Cardoso, Sebastien Ourselin, Jennifer M Nicholas, Niklas Norgren, Simon Mead, Ulf Andreasson, Kaj Blennow, Jonathan M Schott, Nick C Fox, Jason D Warren, Henrik Zetterberg Journal of Neurochemistry 138, 383-383

Probing FTD genetics with a next-generation sequencing gene panel
Koriath C, Adamson G, Druyeh R, Kenny J, Rossor M, Schott J, Mummery C, Fox N, Warren J, Collinge J, Rohrer J, Mead S, Journal of Neurochemistry 138, 320-320

TMEM106B polymorphism is associated with lower cortical volumes in a clinically diagnosed FTD cohort
SR Harding, M Bocchetta, E Gordon, DM Cash, MJ Cardoso, G Adamson, Journal of Neurochemistry 138, 315-315

Use of Diffusion-Weighted Magnetic Resonance Imaging in Sporadic Creutzfeldt-Jakob Disease—Reply
Laura Eisenmenger, MD; Simon Mead, PhD; Harpreet Hyare, PhD JAMA neurology 73 (9), 1154-1154

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia.
Rohrer JD, Woollacott IO, Dick KM, Brotherhood E, Gordon E, Fellows A, Toombs J, Druyeh R, Cardoso MJ, Ourselin S, Nicholas JM, Norgren N, Mead S, Andreasson U, Blennow K, Schott JM, Fox NC, Warren JD, Zetterberg H. Neurology 87 (13), 1329-1336 2 2016

Diagnosing Sporadic Creutzfeldt-Jakob Disease by the Detection of Abnormal Prion Protein in Patient Urine.
Luk C, Jones S, Thomas C, Fox NC, Mok TH, Mead S, Collinge J, Jackson GS.JAMA Neurol. 2016 Oct 3. doi: 10.1001/jamaneurol.2016.3733. PubMed PMID: 27699415.

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS, Nicholas JM, Weston PS, Liang Y, Lashley T, Guerreiro R, Adamson G, Kenny J, Beck J, Chavez-Gutierrez L, de Strooper B, Revesz T, Holton J, Mead S, Rossor MN, Fox NC. The Lancet Neurology 2 2016

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation
Bras J, Djaldetti R, Alves AM, Mead S, Darwent L, Lleo A, Molinuevo JL, Blesa R, Singleton A, Hardy J, Clarimon J, Guerreiro R. Neurobiology of Aging 46, 236. e1-236. e6

Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease
Mead S, Burnell M, Lowe J, Thompson A, Lukic A, Porter MC, Carswell C, Kaski D, Kenny J, Mok TH, Bjurstrom N, Franko E, Gorham M, Druyeh R, Wadsworth JD, Jaunmuktane Z, Brandner S, Hyare H, Rudge P, Walker AS, Collinge J. Jama Neurol. 2016 doi: 10.1001/jamaneurol.2015.4885.

Genetic risk factors for the posterior cortical atrophy variant of Alzheimer’s disease.
Schott JM, Crutch SJ, Carrasquillo MM, Uphill J, Shakespeare TJ, Ryan NS, Yong KX, Lehmann M, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Murray ME, Khan QU, Petersen RC, Dickson DW, Knopman DS, Rabinovici GD, Miller BL, Gonzalez AS, Gil-Néciga E, Snowden JS, Harris J, Pickering-Brown SM, Louwersheimer E, van der Flier WM, Scheltens P, Pijnenburg YA, Galasko D, Sarazin M, Dubois B, Magnin E, Galimberti D, Scarpini E, Cappa SF, Hodges JR, Halliday GM, Bartley L, Carrillo MC, Bras JT, Hardy J, Rossor MN, Collinge J, Fox NC, Mead S.    Alzheimers Dement. 2016 pii: S1552-5260(16)00077-7. doi: 10.1016/j.jalz.2016.01.010.

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.
Balendra R, Uphill J, Collinson C, Druyeh R, Adamson G, Hummerich H, Zerr I, Gambetti P, Collinge J, Mead S. BMC Med Genet. 2016; 17(1):28. doi: 10.1186/s12881-016-0278-2

Ex vivo mammalian prions are formed of paired double helical prion protein fibrils.
Terry C, Wenborn A, Gros N, Sells J, Joiner S, Hosszu LLP, Tattum H, Panico S,  Clare DK, Collinge J, Saibil HR, Wadsworth JDF. Ex vivo mammalian prions are formed of paired double helical prion protein fibrils.  Open Biol. 2016: 160035

Physical, chemical and kinetic factors affecting prion infectivity. 
Properzi F, Badhan A, Klier S, Schmidt C, Klöhn PC, Wadsworth JDF, Clarke AR, Jackson GS, Collinge J.  Prion 2016; doi: 10.1080/19336896.2016.1181250

Quantitative EEG parameters correlate with the progression of human prion diseases.
Franko E, Wehner T, Joly O, Lowe J, Porter MC, Kenny J, Thompson A, Rudge P, Collinge J, Mead S. J Neurol Neurosurg Psychiatry 2016: 313501; doi:10.1136/jnnp-2016-313501

Collinge et al. reply. Collinge J, Jaunmuktane Z, Mead S, Rudge P, Brandner S. Nature 2016;535(7611):E2-3.

Evolutionary conservation and divergence of the activity-dependent transcriptome
Qiu, J., McQueen, J., Bilican, B., Dando, O., Haghi, G., Cezard, T., Burr, K., Patani, R., Rajan, R., Sheppard, O., Kind, P.C., Simpson, I., Tybulewicz, V.L.J., Wyllie, D.J.A., Gharbi, K., Fisher, E.M.C., Chandran, S., Hardingham, G.E.  In Press eLife

Fully-automated µMRI morphometric phenotyping of the Tc1 model of Down syndrome.
Powell, N.M., Modat, M., Cardoso, M.J., Ma, D., Holmes, H.E., Yu, Y., O'Callaghan, J., Cleary, J.O., Sinclair, B., Wiseman, F.K.,Tybulewicz, V.L.J., Fisher, E.M.C., Lythgoe, M.F., Ourselin, S. (2016) PLoS ONE 11(9): e0162974. doi:10.1371/journal. pone.0162974.

A syntenic cross species aneuploidy genetic screen links RCAN1 expression to β-cell mitochondrial dysfunction in Type 2 diabetes  Peiris, H., Duffield, M.D., Fadista, J., Jessup, C.F., Kashmir, V., Genders, A.J., McGee, S.L., Martin, A.M., Saeidi, M., Morton, N., Cousin, M.A., Carter, R., Kontos, A.C., Oskolkov, N., Volkov, P., Hough, T.A., Fisher, E.M.C., Tybulewicz, V.L.J., Busciglio, J., Coskun, P.E., Becker, A., Belichenko, P.V., Mobley, W.C., Ryan, M.T., Chan J.Y., Laybutt, D.R., Coates, P.T., Yang, S., Ling, C., Groop, L., Pritchard, M.A., Keating, D.J. (2016) PLOS Genetics 12(5): e1006033. doi:10.1371/journal.pgen.1006033

Tc1 mouse model of trisomy-21 dissociates properties of short- and long-term recognition memory.
Hall, J.H., Wiseman, F.K., Fisher, E.M.C., Tybulewicz, V.L.J., Harwood, J.L., Good, M.A. (2016) Neurobiology of Learning and Memory. 130, 118-128.

Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel.
Lana-Elola, E., Watson-Scales, S., Slender, A., Gibbins, D., Martineau, A., Douglas, C., Mohun, T., Fisher, E.M.C., Tybulewicz, V.L.J. (2016)  eLife 2016;5:e11614. DOI: 10.7554/eLife.11614

Imaging the accumulation and suppression of tau pathology using multi-parametric MRI.
Holmes, H.E., Colgan, N., Ismail, O., Ma, D., Powell, N.M., O’Callaghan, J.M., Harrison, I.F., Johnson, R.A., Murray, T.K., Ahmed, Z., Heggenes, M., Fisher, A., Cardoso, J., Modat, M., Walker-Samuel, S., Fisher, E.M.C., Ourselin, S., O’Neill, M.J.,  Wells, J.A., Collins, E.C., Lythgoe, M.F.(2016)  Neurobiology of Aging, 39: 184-194 http://dx.doi.org/10.1016/j.neurobiolaging.2015.12.001 

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.
Joyce, P.I., Fratta, P., Landman, A., McGoldrick, P., Wackerhage, H., Groves, M., Busam, B.S., Galino, J., Corrochano, S., Beskina, O.A., Esapa, C., Ryder, E., Carter, S., Stewart, M., Codner, G., Hilton, H., Teboul, L., Lionikas, A., Estabel, J., Ramirez-Solis, R., White, J.K., Tucker, J., Brandner, S., Plagnol V., Bennett, L.H., Abramov, A.Y., Greensmith, L., Fisher, E.M.C.*, Acevedo-Arozena, A.* (2015)  Hum Molec Genet. 25: 291-307    doi: 10.1093/hmg/ddv471 *Corresponding author

Application of neurite orientation dispersion and density imaging (NODDI) to a tau pathology model of Alzheimer’s disease.
Colgan, N., Siow, B., O’Callaghan, J.M., Harrison, I.F., Wells, J.A., Holmes, H.E., Ismail, O., Richardson, S., Alexander, D.C., Collins, E.C., Fisher E.M.C., Johnson, R., Schwarz, A.J., Ahmed, Z., O’Neill, M.J., Murray, T.K., Zhang, H., Lythgoe, M.F. (2016)  Neuroimage. 125: 739-744. doi: 10.1016/j.neuroimage.2015.10.043. PMID: 26505297

Intracerebral haemorrhage in Down syndrome: protected or predisposed?
Buss L, Fisher E, Hardy J, Nizetic, D., Groet, J., Pulford, L., Strydom, A (2016). F1000Research 2016, 5(F1000 Faculty Rev):876 (doi: 10.12688/f1000research.7819.1)

The importance of understanding individual differences in Down syndrome.
Karmiloff-Smith, A., Al-Janabi, T., D’Souza, H., Groet, J., Massand, E., Mok, K., Startin, C., Fisher, E.M.C., Hardy, J., Nizetic, D., Tybulewicz, V.L.J., Strydom, A., (2016)  5(F1000 Faculty Rev):389 (doi: 10.12688/f1000research.7506.1)

One target for amyotrophic lateral sclerosis therapy? Mizielinska S, Isaacs AM.  Science. 2016 Aug 12;353(6300):647-8.

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster
Iyer J, Wang Q, Le T, Pizzo L, Grönke S, Ambegaokar S, Imai Y, Srivastava A, Llamusí Troisí B, Mardon G, Artero R, Jackson GR, Isaacs AM, Partridge L, Kumar JP, Girirajan S. G3 (Bethesda). 2016 May 3;6(5):1427-37.

Prion-mediated neurodegeneration is associated with early impairment of the ubiquitin-proteasome system.
McKinnon C, Goold R, Andre R, Devoy A, Ortega Z, Moonga J, Linehan JM, Brandner S, Lucas JJ, Collinge J, Tabrizi SJ.
Acta Neuropathol. 2015 Dec 8.

Evolution of Diffusion-Weighted Magnetic Resonance Imaging Signal Abnormality in Sporadic Creutzfeldt-Jakob Disease, With Histopathological Correlation.
Eisenmenger L, Porter MC, Carswell CJ, Thompson A, Mead S, Rudge P, Collinge J, Brandner S, Jager HR, Hyare H. JAMA Neurol. 2016; 73(1):76-84. doi:10.1001/jamaneurol.2015.3159.

 

2015 Publications

MRI detection of prion protein plaques in variant Creutzfeldt-Jakob disease
Hyare H, So PW, Brandner S, Collinge J, Parkes HG. Neurology. 2015 Apr 7;84(14):1498-9.
doi: 10.1212/WNL.0000000000000304.

Preclinical detection of infectivity and disease-specific PrP in blood throughout the incubation period of prion disease.
Sawyer EB, Edgeworth JA, Thomas C, Collinge J, Jackson GS. Sci Rep. 2015 Dec 3;5:17742. doi: 10.1038/srep17742.

A systematic investigation of production of synthetic prions from recombinant prion protein.
Schmidt C, Fizet J, Properzi F, Batchelor M, Sandberg MK, Edgeworth JA, Afran L, Ho S, Badhan A, Klier S, Linehan JM, Brandner S, Hosszu LL, Tattum MH, Jat P, Clarke AR, Klöhn PC, Wadsworth JD, Jackson GS, Collinge J. Open Biol. 2015 Dec; 5(12). pii: 150165. doi: 10.1098/rsob.150165.

A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease
Gami P, Murray C, Schottlaender L, Bettencourt C, De Pablo Fernandez E, Mudanohwo E, Mizielinska S, Polke JM, Holton JL, Isaacs AM, Houlden H, Revesz T, Lashley T Acta Neuropathol. 2015 Sep 7. [2015 Oct;130(4):599-601.

G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome
Simone R, Fratta P, Neidle S, Parkinson GN, Isaacs AM. FEBS Lett. 2015 Jun 22;589(14):1653-1668.

Conformation determines the seeding potencies of native and recombinant tau aggregates
Falcon B, Cavallini A, Angers R, Glover S, Murray TK, Barnham L, Jackson S, O'Neill MJ, Isaacs AM, Hutton ML, Szekeres PG, Goedert M, Bose S J Biol Chem. 2015; 290(2):1049-65.

The cognitive profile of prion disease: a prospective clinical and imaging study
Caine D, Tinelli RJ, Hyare H, De Vita E, Lowe J, Lukic A, Thompson A, Porter M-C, Cipolotti L, Rudge P, Collinge C, Mead S. Annals Clin Trans Neurol 2015; 2 548-58.

Genome-wide association study of behavioural and psychiatric features in human prion disease
Thompson A, Uphill J, Lowe J, Porter M, Lukic A, Carswell C, Rudge P, Mackay A, Collinge J, Mead S. Translational Psychiatry. 2015 21; 5:e552.

Rare structural genetic variation in human prion diseases
Lukic A, Uphill J, Brown C, Beck J, Poulter M, Campbell T, Adamson G, Hummerich H, Whitfield J, Ponto C, Zerr I, Lloyd S, Collinge J. Neurobiology of Aging. 2015; 36 2004.e1-8.

Convergent genetic and expression data implicate immunity in Alzheimer's disease.
Jones L, Lambert J, Wang L, Choi S, Harold D, Vedernikov A, Escott-Price V, Stone T, Richards A, Bellenguez C, Ibrahim-Verbaas C, Naj A, Sims R, Gerrish A, Jun G, DeStefano A, Bis J, Beecham G, Grenier-Boley B, Russo G, Thornton-Wells T, Jones N, Smith A, Chouraki V, Thomas C, Ikram M, Zelenika D, Vardarajan B, Kamatani Y, Lin C, Schmidt H, Kunkle B, Dunstan M, Ruiz A, Bihoreau M, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick A, Buxbaum J, Campion D, Crane P, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez O, De Jager P, Deramecourt V, Johnston J, Evans D, Lovestone S, Letteneur L, Kornhuber J, Tárraga L, Rubinsztein D, Eiriksdottir G, Sleegers K, Goate A, Fiévet N, Huentelman M, Gill M, Emilsson V, Brown K, Kamboh M, Keller L, Barberger-Gateau P, McGuinness B, Larson E, Myers A, Dufouil C, Todd S, Wallon D, Love S, Kehoe P, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleò A1, Bayer A, Tsuang D, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia F, Fox N, Hardy J, Deniz Naranjo M, Razquin C, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Mrc Cfas, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert J, Mayhaus M, Jessen F, Dichgans M Lannfelt L, Hakonarson H, Pichler S, Carrasquillo M, Ingelsson M, Beekly D, Alavarez V, Zou F, Valladares O, Younkin S, Coto E, Hamilton-Nelson K, Mateo I, Owen M, Faber K, Jonsson P, Combarros O, O'Donovan M, Cantwell L, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett D, Harris T, Fratiglioni L, Holmes C, de Bruijn R, Passmore P, Montine T, Bettens K, Rotter J, Brice A, Morgan K, Foroud T, Kukull W, Hannequin D, Powell J, Nalls M, Ritchie K, Lunetta K, Kauwe J, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin E, Pastor P, Schmidt R, Rujescu D, Dartigues J, Mayeux R, Tzourio C, Hofman A, Nöthen M, Graff C, Psaty BM, Haines J, Lathrop M, Pericak-Vance M, Launer L, Farrer L, van Duijn C, Van Broeckhoven C, Ramirez A, Schellenberg G, Seshadri S, Amouyel P, Williams J, Holmans P. Alzheimers Dement. 2015; 11 658-71.

Identification of clinical target areas in the brainstem of prion infected mice.
Mirabile I, Jat PS, Brandner S, Collinge JNeuropathol Appl Neurolbiol. 2015; 41 613-30. 

Neuronal antibodies in patients with suspected or confirmed sporadic Creutzfeldt-Jakob disease
Rossi M, Mead S, Collinge J, Rudge P, Vincent A.J Neurol Neurosurg Psychiatry. 2015; 86 692-4.

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology
Clayton EL, Mizielinska S, Edgar JR, Nielsen TT, Marshall S, Norona FE, Robbins M, Damirji H, Holm IE, Johannsen P, Nielsen JE, Asante EA, Collinge J; FReJA consortium, Isaacs AM. Acta Neuropathol. 2015 Oct;130(4):511-23.

Dissecting Alzheimer disease in Down syndrome using mouse models
Choong, X.Y., Tosh, J.L., Fisher, E.M.C. Front. Behav. Neurosci. 9:268. doi: 10.3389/fnbeh.2015.00268

Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years
Rudge, P., Jaunmuktane, Z., Adlard, P., Bjurstrom, N., Caine, D., Lowe, J., Norsworthy, P., Hummerich, H., Druyeh, R., Wadsworth, J.D.F., Brandner, S., Hyare, H., Mead, S. and Collinge, J. Brain 138, 3386-3399.

Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes
Miller JR, Träger U, Andre R, Tabrizi SJ

Characterisation of immune cell function in fragment and full-length Huntington's disease mouse models.
Träger U, Andre R, Magnusson-Lind A, Miller JR, Connolly C, Weiss A, Grueninger S, Silajdžić E, Smith DL, Leavitt BR, Bates GP, Björkqvist M, Tabrizi S

A novel Alzheimer disease locus located near the gene encoding tau protein
Jun G, Ibrahim-Verbaas C, Vronskaya M, Lambert J, Chung J, Naj A, Kunkle B, Wang L, Bis J, Bellenguez C, Harold D, Lunetta KL, Destefano A, Grenier-Boley B, Sims R, Beecham G, Smith A, Chouraki V, Hamilton-Nelson K, Ikram M, Fievet N, Denning N, Martin E, Schmidt H, Kamatani Y, Dunstan M, Valladares O, Laza A, Zelenika D, Ramirez A, Foroud T, Choi S, Boland A, Becker T, Kukull W, van der Lee S, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick A, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett D, Amin N, Berr C, Tsolaki M, Buxbaum J, Lopez O, Deramecourt V, Fox N, Cantwell L, Tárraga L, Dufouil C, Hardy J, Crane P, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley T Jr, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues J, Hampel H, Kamboh M, de Bruijn R, Tzourio C, Pastor P, Larson E, Rotter J, O'Donovan M, Montine T, Nalls M, Mead S, Reiman E, Jonsson P, Holmes C, St George-Hyslop P, Boada M, Passmore P, Wendland J, Schmidt R, Morgan K, Winslow A, Powell J, Carasquillo M, Younkin S, Jakobsdóttir J, Kauwe J, Wilhelmsen K, Rujescu D, Nöthen M, Hofman A, Jones L; IGAP Consortium, Haines J, Psaty B, Van Broeckhoven C, Holmans P, Launer L, Mayeux R, Lathrop M, Goate A, Escott-Price V, Seshadri S, Pericak-Vance M, Amouyel P, Williams J, van Duijn C, Schellenberg G, Farrer L.Mol Psychiatry. 2015, March 17. doi: 10.1038/mp.2015.23.

Evidence for human transmission of amyloid ß pathology and cerebral amyloid angiopathy
Zane Jaunmuktane, Simon Mead, Matthew Ellis, Jonathan D. F. Wadsworth, Andrew J. Nicoll, Joanna Kenny,Francesca Launchbury, Jacqueline Linehan, Angela Richard-Loendt, A. Sarah Walker, Peter Rudge, John Collinge & Sebastian Brandner

Inherited mtDNA variations are not strong risk factors in human prion disease
Gavin Hudson, James Uphill, Holger Hummerich, Janice Blevins, Pierluigi Gambetti, Inga Zerr, John Collinge, Simon Mead, Patrick F. Chinnery

Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS.
Asante EA, Grimshaw A, Smidak M, Jakubcova T, Tomlinson A, Jeelani A, Hamdan S, Powell C, Joiner S, Linehan JM, Brandner S, Wadsworth JD, Collinge J

CHCHD10 Pro34Ser is not a pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
Abdelkarim, S., Morgan, S., Plagnol, V., Adamson, G., Lu, C.-H., Howard, R., Malaspina, A., Orrell, R., Sharma, N., Sidle, K., Clarke, J., Hardy, J, Fisher, E., Rohrer, J., Mead, S., Pitman, A., Fratta, P. (2015)  Brain.

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.
Nature Reviews NeuroscienceWiseman, F.K., Fisher, E.M.C.*, Al-Janabi, T., Hardy, J., Karmiloff-Smith, A., Nizetic, D., Tybulewicz, V.L.J, Strydom, A.  (2015)

Identification of a compound which disrupts binding of amyloid-beta to the prion protein using a novel fluorescence-based assay
Emmanuel Risse, Andrew J. Nicoll, William A. Taylor, Daniel Wright, Mayank Badoni, Xiaofan Yang, Mark A. Farrow and John Collinge J Biol Chem. 2015; 290 17020-8.

A novel and rapid method for obtaining high titre intact prion strains from mammalian brain 
Adam Wenborn, Cassandra Terry, Natalie Gros, Susan Joiner, Laura D’Castro, Silvia Panico, Jessica Sells, Sabrina Cronier, Jacqueline M. Linehan, Sebastian Brandner, Helen R. Saibil, John Collinge & Jonathan D. F. Wadsworth

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.
Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Orrell RW, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD. Lancet Neurol. 2015 Mar;14(3):291-301. doi: 10.1016/S1474-4422(14)70233-9. Epub 2015 Jan 29. Review. Erratum in: Lancet Neurol. 2015 Apr;14(4):350. PMID: 25638642

A naturally occurring variant of the human prion protein completely prevents prion disease  
Emmanuel A. Asante, Michelle Smidak, Andrew Grimshaw1, Richard Houghton, Andrew Tomlinson, Asif Jeelani, Tatiana Jakubcova, Shyma Hamdan, Angela Richard-Londt, Jacqueline M. Linehan, Sebastian Brandner, Michael Alpers, Jerome Whitfield, Simon Mead, Jonathan D.F. Wadsworth and John Collinge

Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients
Wild EJ, Boggio R, Langbehn D, Robertson N, Haider S, Miller JR, Zetterberg H, Leavitt BR, Kuhn R, Tabrizi SJ, Macdonald D, Weiss A.

Increased Cerebral Vascular Reactivity in the Tau Expressing rTg4510 mouse: Evidence Against the Role of Tau Pathology to Impair Vascular Health in Alzheimer’s Disease.
Wells, J.A., Holmes, H.E., O’Callaghan, J.M., Colgan, N., Ismail, O., Fisher, E.M.C., Siow, B., Murray, T.K., Schwarz, A.J., O’Neill, M.J., Collins, E.C., Lythgoe, M.F. J Cereb Blood Flow Metab.35:359-62. doi: 10.1038/jcbfm.2014.224. 

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity
Joyce,P.I., McGoldrick, P., Saccon, R. A., Weber, W., Fratta, P., West, S. J., Zhu, N., Carter, S., Phatak, V., Stewart, M., Simon, M., Kumar, S., Heise, I., Bros-Facer, V., Dick, J., Luong, T., Nolan, P.M., Meyer, T., Brandner, S., Bennett, D.L.H., Ozdinler, P.H.,Greensmith, L., Fisher, E.M.C Hum. Molec. Genet. 24: 1883-1897

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM.C Neurobiol Aging. 36: 546.e1–546.e7

 

2014 Publications

 

2013 Publications

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Hollingworth P, Ramirez A, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F; European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease (GERAD); Alzheimer's Disease Genetic Consortium (ADGC); Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert JR, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Wang LS, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Jones L, Haines JL, Holmans PA, Lathrop M, Pericak-Vance MA, Launer LJ, Farrer LA, van Duijn CM, Van Broeckhoven C, Moskvina V, Seshadri S, Williams J, Schellenberg GD, Amouyel P. Nat Genet 2013; 45: 1452-8.

Authors’ response to comment on ‘Autoantibodies in sporadic Creutzfeldt-Jakob disease’
Angus-Leppan H, Rudge P, Mead S, Collinge J, Vincent A . JAMA Neurol 2013; 70: 1589.

Inherited Prion Disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein
Asante EA, Linehan JM, Smidak M, Tomlinson A, Grimshaw A, Jeelani A, Jakubcova T, Hamdan S, O’Malley C, Powell C, Brandner S, Wadsworth JDF, Collinge J.  PLoS Pathog 2013; 9: e1003643.

Atypical scrapie prions from sheep fail to produce disease in transgenic mice overexpressing human prion protein.
Wadsworth JDF, Joiner S, Linehan JM, Balkema-Buschmann A, Spiropoulos J, Simmons MM, Griffiths PC, Groschup MH, Hope J, Brandner S, Asante EA, Collinge J. Emerg Infect Dis 2013; 19: 1731-39.

Amyloid-β nanotubes are associated with prion protein dependent synaptotoxicity.
Nicoll AJ, Panico S, Freir D, Wright D, Terry C, Risse E, Herron CE, O’Malley T, Wadsworth J, Farrow M, Walsh D, Saibil HR, Collinge J.  Nat Commun 2013; 4: 2416. 

Exosome release from infected dendritic cells: A clue for a fast spread of prions in the periphery?
Klöhn PC, Castro-Seoane R, Collinge J.
J Infect. 2013 Jul 31. doi:pii: S0163-4453(13)00211-9. 10.1016/j.jinf.2013.07.024.

Genetics of prion diseases
Lloyd SE, Mead S, Collinge J. Curr Opin Genet Dev 2013; 23: 345-51.

Developing early diagnostics for prion diseases
Jackson GS, Mead S, Collinge J.  Neurodegener Dis Manag 2013; 3: 53-60.

Validation of next generation sequencing technologies in genetic diagnosis of dementia
Beck J, Pittman A, Adamson G, Campbell T, Kenny J, Houlden H, Rohrer JD, de Silva R, Shoai M, Uphill J, Poulter M, Hardy J, Mummery CJ, Warren JD, Schott JM, Fox NC, Rossor MN, Collinge J, Mead S.  Neurobiol Aging 2013; 35: 261-5.

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EMC, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S. Neuropathol 2013; 126: 401- 9.

A novel prion disease presenting with diarrhea and autonomic neuropathy
Mead S, Gandhi S, Beck J, Caine D, Gallujipali D, Carswell C, Hyare H, Joiner S, Ayling H, Lashley T, Linehan JM, Al-Doujaily H, Sharps B, Revesz T, Sandberg M, Reilly M, Koltzenburg M, Forbes A, Rudge P, Brandner S, Warren JD, Wadsworth JDF, Wood NW, Holton JL, Collinge J.  New Eng J Med 2013; 369: 1904-14.

Autoantibodies in sporadic Creutzfeldt-Jakob disease
Angus-Leppan H, Rudge P, Mead S, Collinge J, Vincent A. JAMA Neurol 2013; 70: 919-22.

Alternative fates of newly formed PrPSc upon prion conversion on the plasma membrane
Goold R, McKinnon C, Rabbanian S, Collinge J, Schiavo G, Tabrizi SJ.  J Cell Sci 2013; 126: 3552-62.

Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases
Reiniger L, Mirabile I, Lukic A, Wadsworth JDF, Linehan JM, Groves M, Lowe J, Druyeh R, Rudge P, Collinge J, Mead S, Brandner S. Acta Neuropathol Comm 2013; 1: 8.

Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study.
Stokholm J, Teasdale TW, Johannsen P, Nielsen JE, Nielsen TT, Isaacs A, Brown JM, Gade A; Frontotemporal dementia Research in Jutland Association (FReJA) consortium.
J Neurol Neurosurg Psychiatry 2013; 84: 170-6.

The Medical Research Council Prion Disease Rating Scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies
Thompson A, Lowe J, Fox Z, Lukic A, Porter MC, Ford L, Gorham M, Gopalakrishnan G, Rudge P, Walker SA, Collinge J, Mead S. Brain 2013; 136: 1116-27.

Alternative fates of newly formed PrPSc upon prion conversion on the plasma membrane
R Goold, C McKinnon, S Rabbanian, J Collinge, G Schiavo, SJ Tabrizi
Journal of Cell Science. June 26, 2013 doi: 10.1242/​jcs.120477

Sod1 deficiency reduces incubation time in mouse models of prion disease
Akhtar S, Grizenkova J, Wenborn A, Hummerich H, Fernandez de Marco M, Brandner S, Collinge J, Lloyd SE.  PLoS One 2013; 8: e54454.

Multiparameter MR imaging in the 6-OPRI variant of inherited prion disease
De Vita E, Ridgway GR, Scahill R, Caine D, Rudge P, Yousry T, Mead S, Collinge J, Jäger HR, Thornton JS, Hyare H. AJNR Am J Neuroradiol 2013; 34: 1723-30.

A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer’s disease risk.
Chapman J, Rees E, Harold D, Invanov D, Gerrish A, Sims R, Hollingworth P, Stretton A, GERAD1 Consortium, Holmans P, Owen MJ, O’Donovan MC, Williams J, Kirov G.  Hum Mol Genet 2013; 22: 816-24.

TREM2 variants predispose to Alzheimer’s disease
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JSK, Lupton MK, Mina Ryten1, Kristelle Brown9, the EADI Consortium, the GERAD Consortium, the UKBE Consortium, Lowe J, Ridge PG, Hammer MB, Wakutani Y, Hazrati L, Proitsi P, Newhouse S, Lohmann E, Erginel- Unaltuna N, Medway C, Hanagasi H, Troakes C, Gurvit H, Bilgic B, Al-Sarraj S, Benitez B, Cooper B, Carrell D, Emre M, Zou F, Ma L, Murray M, Dickson D, Younkin S, Petersen RC, Corcoran CD, Cai Y, Oliveira C, Ribeiro MH, Santana I, Tschanz JT, Gibbs R, Norton MC, Kloszewska I, Mecocci P, Soininen H, Tsolaki M, Vellas B, Munger RG, Mann DMA, Pickering-Brown S, Lovestone S, Beck J, Mead S, Collinge J, Parsons L, Pocock J, Morris JC, Revesz T, Lashley T, Fox NC, Rossor MN, Grenier-Bolay B, Bellenguez C, Moskvina V, Sims R, Harold D, Williams J, Lambert JC, Amouyel P, Graff-Radford N, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J. N Engl J Med 2013; 368: 117-2.

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data
Prof Sarah J Tabrizi PhD a , Rachael I Scahill PhD a, Gail Owen PhD a, Alexandra Durr MD b, Blair R Leavitt MDCM c, Prof Raymund A Roos MD d, Beth Borowsky PhD e, Prof Bernhard Landwehrmeyer MD f, Prof Chris Frost MA g, Hans Johnson PhD h, David Craufurd MD j k, Ralf Reilmann MD l, Prof Julie C Stout PhD m, Prof Douglas R Langbehn PhD h i, the TRACK-HD Investigators
The Lancet Neurology, Early Online Publication, 9 May 2013

Massively Parallel Sequencing Reveals the Complex Structure of an rradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome
Susan M. Gribble, Frances K. Wiseman, Stephen Clayton, Elena Prigmore, Elizabeth Langley, Fengtang Yang, Sean Maguire, Beiyuan Fu, Diana Rajan, Olivia Sheppard, Carol Scott, Heidi Hauser, Philip J. Stephens, Lucy A. Stebbings, Bee Ling Ng, Tomas Fitzgerald, Michael A. Quail, Ruby Banerjee, Kai Rothkamm, Victor L. J. Tybulewicz, Elizabeth M. C. Fisher, Nigel P. Carter
PLOS ONE April 2013 10.1371/journal.pone.0060482

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
Jon Beck, Mark Poulter, Davina Hensman, Jonathan D. Rohrer, Colin J. Mahoney, Gary Adamson, Tracy Campbell, James Uphill, Aaron Borg, Pietro Fratta, Richard W. Orrell, Andrea Malaspina, James Rowe, Jeremy Brown, John Hodges, Katie Sidle, James M. Polke, Henry Houlden, Jonathan M. Schott, Nick C. Fox, Martin N. Rossor, Sarah J. Tabrizi, Adrian M. Isaacs, John Hardy, Jason D. Warren, John Collinge, and Simon Mead Am J Hum Genet. 2013 Feb 19. pii: S0002-9297(13)00043-8. doi: 10.1016 

The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.
Mahoney CJ, Downey LE, Beck J, Liang Y, Mead S, Perry RJ, Warren JD. J Alzheimers Dis 2013; 36: 239-43.

Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey
Gill ON, Spencer Y, Richard-Loendt A, Kelly C, Dabaghian R, Boyes L, Linehan J, Simmons M, Webb P, Bellerby P, Andrews N, Hilton DA, Ironside JW, Beck J, Poulter M, Mead S, Brandner S.  BMJ 2013; 347: f5675.

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene
Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisguéheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H.  JAMA Neurol 2013; 70: 875-82.

A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk
Chapman J, Rees E, Harold D, Ivanov D, Gerrish A, Sims R, Hollingworth P, Stretton A; GERAD1 Consortium, Holmans P, Owen MJ, O'Donovan MC, Williams J, Kirov G.  Hum Mol Genet 2013; 22: 816-24.

Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia
Rohrer JD, Beck J, Plagnol V, Gordon E, Lashley T, Revesz T, Janssen JC, Fox NC, Warren JD, Rossor MN, Mead S, Schott JM. 
J Neurol Neurosurg Psychiatry 2013; 84: 1411-2.

Linking protective GAB2 variants, increased cortical GAB2 expression and decreased Alzheimer's disease pathology
Zou F, Belbin O, Carrasquillo MM, Culley OJ, Hunter TA, Ma L, Bisceglio GD, Allen M, Dickson DW, Graff-Radford NR, Petersen RC; Genetic and Environmental Risk for Alzheimer’s disease (GERAD1) Consortium, Morgan K, Younkin SG. PLoS One 2013; 8: e64802.

Genetic influences on atrophy patterns in familial Alzheimer's Disease: a comparison of APP and PSEN1 mutations
Scahill RI, Ridgway GR, Bartlett JW, Barnes J, Ryan NS, Mead S, Beck J, Clarkson MJ, Crutch SJ, Schott JM, Ourselin S, Warren JD, Hardy J, Rossor MN, Fox NC. J Alzheimers Dis 2013; 35: 199-212.

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S. Am J Hum Genet 2013; 92: 345-53.

Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis
Lee SH, Harold D, Nyholt DR; ANZGene Consortium; International Endogene Consortium; Genetic and Environmental Risk for Alzheimer's disease Consortium, Goddard ME, Zondervan KT, Williams J, Montgomery GW, Wray NR, Visscher PM.
Hum Mol Genet 2013; 22: 832-41.

 

2012 Publications

The Regiment and medical research: the BSE crisis, UK public health and cannibalism in Papua New Guinea
Whitfield J, Collinge J. Mars & Minerva 2012; 12: 3.

The risk of prion zoonoses
Collinge J.Science 2012; 335: 411-3.

Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS)
Shi H, Belbin O, Medway C, Brown K, Kalsheker N, Carrasquillo M, Proitsi P, Powell J, Lovestone S, Goate A, Younkin S, Passmore P; Genetic and Environmental Risk for Alzheimer's Disease Consortium, Morgan K; Alzheimer's Research UK Consortium. Neurobiol Aging 2012; 33: 1849.

The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk.
Hamilton G, Harris SE, Davies G, Liewald DC, Tenesa A, Payton A, Horan MA, Ollier WE, Pendleton N; Genetic and Environmental Risk for Alzheimer's Disease (GERAD1) Consortium, Starr JM, Porteous D, Deary IJ.  Am J Med Genet B Neuropsychiatr Genet 2012; 159B: 696-70.

Large C9orf72 hexanucleotide repeat expansion mutations defined by a modified Southern blot are seen in multiple neurodegenerative syndromes and are of a higher frequency than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer J, Mahoney C, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren J, Collinge J, Mead S.  Hum Mol Genet 2012; 92: 345-353.

MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease
Carswell C, Thompson A, Lukic A, Stevens J, Rudge P, Mead S, Collinge J, Hyare H. BMC Neurol 2012; 12: 153.

Video rating in neurodegenerative disease clinical trials: the experience of PRION-1.
Carswell C, Rañopa M, Pal S, MacFarlane R, Siddique D, Thomas D, Webb T, Wroe S, Walker S, Darbyshire J, Collinge J, Mead S, Rudge P. Dement Geriatr Cogn Dis Extra 2012; 2: 286-97.

Letter: 11C-PiB PET does not detect PrP-amyloid in prion disease patients including variant Creutzfeldt-Jakob disease
Hyare H, Ramlackhansingh A, Gelosa G, Edison P, Rudge P, Brandner S, Brooks D, Collinge J, Mead S.  J Neurol Neurosurg Psychiatry 2012; 83: 340-1.

Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference
Nielsen TT, Mizielinska S, Hasholt L, Isaacs AM, Nielsen JE; FReJA Consortium.  J Gene Med 2012; 14: 521-9

Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus
Hamilton G, Killick R; Genetic and Environmental Risk for Alzheimer's Disease Consortium; Translational Genomics Research Institute Consortium, Lambert JC, Amouyel P; European Alzheimer Disease Initiative, Carrasquillo MM, Pankratz VS, Graff-Radford NR, Dickson DW, Petersen RC, Younkin SG, Powell JF, Wade-Martins R.  Neurobiol Aging 2012; 33: 1848.

Overexpression of Hspa13 (Stch) reduces prion disease incubation time in mice
Grizenkovaa J, Akhtara S, Hummerich H, Tomlinson A, Asante E, Wenborn A, Wiseman FK, Fisher EMC, Tybulewiczc VL, Brandner S, Collinge J, Lloyd SE. Proc Natl Acad Sci USA 2012; 109: 13722-7.

No consistent evidence for association between mtDNA variants and Alzheimer disease.
Hudson G, Sims R, Harold D, Chapman J, Hollingworth P, Gerrish A, Russo G, Hamshere M, Moskvina V, Jones N, Thomas C, Stretton A, Holmans PA, O'Donovan MC, Owen MJ, Williams J, Chinnery PF;GERAD1 Consortium. Neurology 2012; 78: 1038-42.

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Hardy J, Collinge J, Revesz T, Mead S, Warren JD.  Brain 2012; 135: 736-50.

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
Ghazi-Noori S, Froud KE, Mizielinska S, Powell C, Smidak M, Fernandez de Marco M, O'Malley C, Farmer M, Parkinson N, Fisher EM, Asante EA, Brandner S, Collinge J, Isaacs AM.  Brain 2012; 135: 819-32.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross sectional study
Majounie E, Renton AE, Mok K, Dopper EGP, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, The Chromosome 9-ALS/FTD Consortium, The French research network on FTLD/FTLD/ALS, The ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin JM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura T, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor B J.  Lancet Neurol 2012; 11: 323-30.

Plasmacytoid dendritic cells sequester high prion titres at early stages of prion infection
Castro-Seoane R, Hummerich H, Sweeting T, Tattum HM, Linehan JM, Fernandez de Marco M, Brandner S, Collinge J, Klöhn PC.  PLoS Pathog 2012; 8: e1002538.

Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation
Beck J, Collinge J, Mead S.  Brain 2012; 135: e209.

Prion protein antibodies do not trigger mouse hippocampal neuron apoptosis.
Klöhn PC, Farmer M, Linehan JM, O'Malley C, Fernandez de Marco M, Taylor W, Farrow M, Khalili-Shirazi A, Brandner S, Collinge J. Science 2012; 335: 52.

Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation
Alner K, Hyare H, Mead S, Rudge P, Wroe S, Rohrer JD, Ridgeway G, Ourselin S, Clarkson M, Hunt H, Fox NC, Webb T, Collinge J, Cipolotti L.  J Neurol Neurosurg Psychiatry 2012; 83: 109-14.

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease
Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Kölsch H, Heun R, Schürmann B, Bussche HV, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Jones L, Holmans PA, O'Donovan MC, Owen MJ, Williams J. J Alzheimers Dis 2012; 28: 377-87.

Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series
McNaughton D, Knight W, Guerreiro R, Ryan N, Lowe J, Poulter M, Nicholl D, Hardy J, Rossor, M, Collinge J, Mead S.  Neurobiol Ageing 2012; 33: 426

Genome wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP
Mead S, Uphill J, Beck J, Poulter M, Campbell T, Lowe J, Adamson G, Hummerich H, Klopp N, Ruckert IM, Wichmann HE, Azazi D, Plagnol V, Pako H, Whitfield J, Alpers MP, Whittaker J, Balding D, Zerr I, Kretzschmar H, Collinge J.  Hum Mol Genet 2012; 21: 1897-906.

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
Pietro Fratta, Sarah Mizielinska, Andrew J. Nicoll, Mire Zloh, Elizabeth M. C. Fisher, Gary Parkinson & Adrian M. Isaacs.
Sci Rep. 2012;2:1016. doi: 10.1038/srep01016. Epub 2012.

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H.  Neurology 2012; 79: 127-31

A common single-nucleotide variant in T is strongly associated with chordoma
Pillay N, Plagnol V, Tarpey PS, Lobo SB, Presneau N, Szuhai K, Halai D, Berisha F, Cannon SR, Mead S, Kasperaviciute D, Palmen J, Talmud PJ, Kindblom LG, Amary MF, Tirabosco R, Flanagan AM. Nat Genet 2012; 44: 1185-7.

Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions
Mahoney CJ, Downey LE, Ridgway GR, Beck J, Clegg S, Blair M, Finnegan S,
Leung KK, Yeatman T, Golden H, Mead S, Rohrer JD, Fox NC, Warren JD. Alzheimers Res Ther 2012; 4: 41.

 

2011 Publications

Molecular pathology of human prion disease
Wadsworth JDF, Collinge J. Acta Neuropathol 2011; 121: 69-77.

Genetics of prion disease
Lloyd S, Mead S, Collinge J.  Top Curr Chem 2011; 305: 1-22.

Sex effects in mouse prion disease incubation time
Akhtar S, Wenborn A, Brandner S, Collinge J, Lloyd SE. PLoS One 2011; 6: e28741.

No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.
Sims R, Dwyer S, Harold D, Gerrish A, Hollingworth P, Chapman J, Jones N, Abraham R, Ivanov D, Pahwa JS, Moskvina V, Dowzell K, Thomas C, Stretton A, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuiness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Livingston G, Bass NJ, Gurling H, McQuillin A, Jones L, Holmans PA, O'Donovan M, Owen MJ, Williams J.  Am J Med Genet B Neuropsychiatr Genet 2011; 156B: 764-71.

Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry
Deriziotis P, André R, Smith DM, Goold R, Kinghorn KJ, Kristiansen M, Nathan JA, Rosenzweig R, Krutauz D, Glickman MH, Collinge J, Goldberg AL, Tabrizi SJ.  EMBO J 2011; 30: 3065-77.

PRION-1 scales analysis supports use of functional outcome measures in prion disease
Mead S, Ranopa M, Gopalakrishnan GS, Thompson A, Rudge P, Wroe S, Kennedy A, Hudson F, Mackay A, Darbyshire J, Collinge J, Walker S.  Neurology 2011; 77: 1674-83.

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors
Kaski DN, Pennington C, Beck J, Poulter M, Uphill J, Bishop MT, Linehan JM, O'Malley C, Wadsworth JDF, Joiner S, Knight RSG, Ironside JW, Brandner S, Collinge J, Mead S.  Brain 2011; 134: 1829-1838.

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC; the Alzheimer's Disease Neuroimaging Initiative, van Duijn CM, Breteler MM, Ikram MA, Destefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S; CHARGE consortium, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alpérovitch A, Lathrop M; EADI1 consortium, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snædal J, Björnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossù P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J.  Nat Genet 2011; 43: 429-435.

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.
Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, Engelborghs S, Collinge J, De Deyn P, Mann D, Van Broeckhoven C, Pickering-Brown S. Neurobiol Aging 2011; 32: 754-5.

Rapid cell-surface prion protein conversion revealed using a novel cell system
Goold R, Rabbanian S, Sutton L, Andre R, Arora P, Moonga J, Clarke AR, Schiavo G, Jat P, Collinge J, Tabrizi SJ. Nat Commun 2011; 2: 281.

Interaction between cellular prion protein and toxic Aβ oligomers can be therapeutically targeted at multiple sites
Freir DB, Nicoll AJ, Klyubin I, Panico S, Mc Donald JM, Risse E, Asante EA, Farrow -MA, Sessions RB, Saibil HR, Clarke AR, Rowan MJ, Walsh DM Collinge J. Nat Commun 2011; 2: 336

A novel exon 2 VCP variant is associated with dissimilar clinical :syndromes.
Rohrer JD, Warren JD, Reiman D, Uphill J, Beck J, Collinge J, Rossor MN, Isaacs AM, Mead S.
J Neurol 2011; 258: 1494-6.

Comment on validation of diagnostic criteria for variant Creutzfeldt-Jakob disease
Lukic A, Mead S, Rudge P, Collinge J.  Ann Neurol 2011; 69: 212.

Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay.
Edgeworth JA, Farmer M, Sicilia A, Tavares P, Beck J, Campbell T, Lowe J, Mead S, Rudge P, Collinge J, Jackson GS. Lancet 2011; 377: 487-93.

Familial Alzheimer’s disease and inherited prion disease in the UK are poorly ascertained
Stevens JC, Beck J, Lukic A, Ryan N, Abbs S, Collinge J, Fox NC, Mead S. J Neurol Neurosurg Psychiatry 2011; 82: 1054-1057.

Tau, prions and Aβ: The triad of neurodegeneration
Reiniger L, Lukic A, Linehan J, Rudge P, Collinge J, Mead S, Brandner S.  Acta Neuropathol 2011; 121: 5- 20.

Threshold for epileptiform activity is elevated in prion knockout mice
Ratte S, Vreugdenhil M, Boult JK, Patel A, Asante EA, Collinge J, Jefferys JG. 
Neuroscience 2011; 179: 56-61.

Effect of fixation on brain and lymphoreticular vCJD prions and bioassay of key positive specimens from a retrospective vCJD prevalence study
Wadsworth JDF, Dalmau-Mena I, Joiner S, Linehan J, O'Malley C, Powell C, Brandner S, Asante EA, Ironside JW, Hilton DA, Collinge J.  J Pathol 2011; 223: 511-8.

Prion propagation and toxicity in vivo occur in two distinct mechanistic phases
Sandberg MK, Al-Doujaily H, Sharps B, Clarke AR, Collinge J.  Nature 2011; 470: 540-2.

Standardised comparison of commercially available prion decontamination reagents using the standard Steel Binding Assay
Edgeworth JA, Sicilia A, Linehan J, Brandner S, Jackson GS, Collinge J.  J Gen Virol 2011; 92: 718-26.

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration
Rohrer JD, Lashley T, Schott JM, Warren JE, Mead S, Isaacs AM, Beck J, Hardy J, de Silva R, Warrington E, Troakes C, Al-Sarraj S, King A, Borroni B, Clarkson MJ, Ourselin S, Holton JL, Fox NC, Revesz T, Rossor MN, Warren JD. Brain 2011; 134: 2565-81.

Activation of nuclear factor-kappa B signalling promotes cellular senescence
Rovillain E, Mansfield L, Caetano C, Alvarez-Fernandez M, Caballero OL, Medema  RH, Hummerich H, Jat PS.Oncogene 2011; 30: 2356-66.

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina
Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR.  Am J Hum Genet 2011; 89: 782-91.

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis.
Rollinson S, Mead S, Snowden J, Richardson A, Rohrer J, Halliwell N, Usher S, Neary D, Mann D, Hardy J, Pickering-Brown S. Neurobiol Aging 2011; 32: 758.e1-7.

prions and Aβ: the triad of neurodegeneration
Reiniger L, Lukic A, Linehan J, Rudge P, Collinge J, Mead S, Brandner S. Tau,  Acta Neuropathol 2011; 121: 5- 20.

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease
Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Peters O, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Rüther E, Carrasquillo MM, Pankratz VS, Younkin SG, Hardy J, O'Donovan MC, Owen MJ, Williams J. PLoS One 2010; 5: e13950. Erratum in: PLoS One 2011; 6.
 

Alzheimer's disease and inherited prion disease in the UK are poorly ascertained
Stevens JC, Beck J, Lukic A, Ryan N, Abbs S, Collinge J, Fox NC, Mead S. Familial . J Neurol Neurosurg Psychiatry 2011; 82: 1054-7.

Tau, prions and Ab: the triad of neurodegeneration
Reiniger L, Lukic A, Linehan J, Rudge P, Collinge J, Mead S, Brandner S.Acta Neuropathol. 2010 May 16.

 

2010 Publications