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chromosome 22q deletion

Parkinson's chromosome deletion linked to other genetic disorders

Researchers, led by BRC-supported Professor Nicholas Wood, UCL Institute of Neurology, have made a breakthrough in their understanding of Parkinson’s disease after they discovered a chromosome deletion linked to Parkinson’s disease and other genetic disorders. More...

Prof John Hardy

Prof John Hardy is the first UK winner of $3m Breakthrough Prize in Life Sciences

Professor John Hardy (UCL Institute of Neurology) has been awarded the $3 million Breakthrough Prize in Life Sciences for his pioneering research into the genetic causes of Alzheimer’s disease, other forms of dementia and Parkinson’s disease. More...

John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.

Jose Miguel Bras

(Research Fellow)

Jose Tomas Bras

I am a human geneticist whose research interests are primarily directed at how genetic variability acts on neurodegenerative diseases. My scientific carrier started with a B.Sc. from the Coimbra Polytechnic Institute, Portugal in 2002, followed by a M.S. degree from the Aveiro University, Portugal in 2005 and lastly a PhD (Hons) degree from the Coimbra University, Portugal in 2010. During my PhD I have worked under the supervision of Dr. Andrew Singleton and Dr. Catarina Oliveira at the Laboratory of Neurogenetics, NIA, NIH, USA studying the genetic basis of neurological diseases. In 2010 I joined UCL as a postdoctoral research assistant in the Department of Molecular Neuroscience, where I continue to study the genetic basis of neurodegenerative diseases.


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Number of items: 63.


Boutoleau-Bretonnière, C; Camuzat, A; Le Ber, I; Bouya-Ahmed, K; Guerreiro, R; Deruet, AL; Evrard, C; (2015) A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. J Alzheimers Dis , 43 (2) 625 - 630. 10.3233/JAD-141512. Green open access


Benitez, BA; Jin, SC; Guerreiro, R; Graham, R; Lord, J; Harold, D; Sims, R; (2014) Missense variant in TREML2 protects against Alzheimer's disease. Neurobiol Aging , 35 (6) 1510.e19 - 1510.e26. 10.1016/j.neurobiolaging.2013.12.010.

Bras, J; Guerreiro, R; Darwent, L; Parkkinen, L; Ansorge, O; Escott-Price, V; Hernandez, DG; (2014) Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet , 23 (23) 6139 - 6146. 10.1093/hmg/ddu334. Green open access

Bras, J; Guerreiro, R; Santo, GC; (2014) Mutant ADA2 in Vasculopathies. NEW ENGLAND JOURNAL OF MEDICINE , 371 (5) 479 - 480.

Cheshire, P; Bertram, K; Ling, H; O'Sullivan, SS; Halliday, G; McLean, C; Bras, J; (2014) Influence of single nucleotide polymorphisms in COMT, MAO-A and BDNF genes on dyskinesias and levodopa use in Parkinson's disease. Neurodegener Dis , 13 (1) 24 - 28. 10.1159/000351097.

Cruchaga, C; Karch, CM; Jin, SC; Benitez, BA; Cai, Y; Guerreiro, R; Harari, O; (2014) Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature , 505 (7484) 550 - 554. 10.1038/nature12825.

Erro, R; Hersheson, J; Ganos, C; Mencacci, NE; Stamelou, M; Batla, A; Thust, SC; (2014) H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord 10.1002/mds.26129.

Guerreiro, R; Brás, J; Hardy, J; Singleton, A; (2014) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet , 23 (R1) R47-R53. 10.1093/hmg/ddu203. Green open access

Guerreiro, R; Brás, J; Wojtas, A; Rademakers, R; Hardy, J; Graff-Radford, N; (2014) A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiol Aging 10.1016/j.neurobiolaging.2014.05.013.

Kara, E; Bras, J; Wood, NW; Hardy, J; Houlden, H; Hernandez, D; Xiromerisiou, G; (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiology of Aging , 35 (2) 10.1016/j.neurobiolaging.2013.07.011.

Kara, E; Xiromerisiou, G; Spanaki, C; Bozi, M; Koutsis, G; Panas, M; Dardiotis, E; (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging , 35 (2) 442.e9 - 442.e16. 10.1016/j.neurobiolaging.2013.07.011.

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. BRAIN , 137 2480 - 2492. 10.1093/brain/awu179.

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain , 137 (9) pp. 2480-2492. 10.1093/brain/awu179. Green open access

Nalls, MA; Pankratz, N; Lill, CM; Do, CB; Hernandez, DG; Saad, M; DeStefano, AL; (2014) Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet , 46 (9) 989 - 993. 10.1038/ng.3043.

Sassi, C; Guerreiro, R; Gibbs, R; Ding, J; Lupton, MK; Troakes, C; Al-Sarraj, S; (2014) Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging , 35 (12) 2881.e1 - 2881.e6. 10.1016/j.neurobiolaging.2014.06.002.

Sassi, C; Guerreiro, R; Gibbs, R; Ding, J; Lupton, MK; Troakes, C; Lunnon, K; (2014) Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiol Aging , 35 (10) 2422.e13-2422.e16. 10.1016/j.neurobiolaging.2014.04.026. Green open access


Bras, JM; (2013) Lysosomal storage disorders and iron. Int Rev Neurobiol , 110 251 - 275. 10.1016/B978-0-12-410502-7.00012-0.

Forabosco, P; Ramasamy, A; Trabzuni, D; Walker, R; Smith, C; Bras, J; Levine, AP; (2013) Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol Aging , 34 (12) pp. 2699-2714. 10.1016/j.neurobiolaging.2013.05.001. Green open access

Guerreiro, R; Bilgic, B; Guven, G; Brás, J; Rohrer, J; Lohmann, E; Hanagasi, H; (2013) A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiology of Aging , 34 (12) 2890.e1-2890.e5. 10.1016/j.neurobiolaging.2013.06.005. Green open access

Guerreiro, R; Bras, JT; Vieira, M; Warrier, V; Agrawal, S; Stewart, H; Anderson, G; (2013) CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. European Journal of Paediatric Neurology , 17 (6) pp. 657-660. 10.1016/j.ejpn.2013.04.011.

Guerreiro, R; Brás, J; Hardy, J; (2013) SnapShot: genetics of Alzheimer's disease. Cell , 155 (4) 968 - 968.e1. 10.1016/j.cell.2013.10.037.

Guerreiro, R; Kara, E; Le Ber, I; Bras, J; Rohrer, JD; Taipa, R; Lashley, T; (2013) Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol , 70 (7) 875 - 882. 10.1001/jamaneurol.2013.698.

Guerreiro, R; Wojtas, A; Bras, J; Carrasquillo, M; Rogaeva, E; Majounie, E; Cruchaga, C; (2013) TREM2 variants in Alzheimer's disease. N Engl J Med , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, R; Wojtas, A; Bras, J; Carrasquillo, M; Rogaeva, E; Majounie, E; Cruchaga, C; (2013) TREM2 Variants in Alzheimer's Disease. NEW ENGLAND JOURNAL OF MEDICINE , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, RJ; Lohmann, E; Brás, JM; Gibbs, JR; Rohrer, JD; Gurunlian, N; Dursun, B; (2013) Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol , 70 (1) 78 - 84. 10.1001/jamaneurol.2013.579.

Holmans, P; Moskvina, V; Jones, L; Sharma, M; International Parkinson's Disease Genomics Consortium, ; Vedernikov, A; Buchel, F; (2013) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet , 22 (5) 1039 - 1049. 10.1093/hmg/dds492.

Klebe, S; Golmard, JL; Nalls, MA; Saad, M; Singleton, AB; Bras, JM; Hardy, J; (2013) The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery and Psychiatry , 84 (6) 666 - 673. 10.1136/jnnp-2012-304475. Green open access

Le Ber, I; Camuzat, A; Guerreiro, R; Bouya-Ahmed, K; Bras, J; Nicolas, G; Gabelle, A; (2013) SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol , 70 (11) 1403 - 1410. 10.1001/jamaneurol.2013.3849.

Moskvina, V; Harold, D; Russo, G; Vedernikov, A; Sharma, M; Saad, M; Holmans, P; (2013) Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. JAMA Neurol , 70 (10) 1268 - 1276. 10.1001/jamaneurol.2013.448.

Nalls, MA; Duran, R; Lopez, G; Kurzawa-Akanbi, M; McKeith, IG; Chinnery, PF; Morris, CM; (2013) A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol , 70 (6) 727 - 735. 10.1001/jamaneurol.2013.1925.


Bras, J; Guerreiro, R; Hardy, J; (2012) Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Nat Rev Neurosci , 13 (7) 453 - 464. 10.1038/nrn3271.

Bras, J; Verloes, A; Schneider, SA; Mole, SE; Guerreiro, RJ; (2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Human Molecular Genetics , 21 (12) 2646 - 2650. 10.1093/hmg/dds089. Green open access

Charlesworth, G; Gandhi, S; Bras, JM; Barker, RA; Burn, DJ; Chinnery, PF; Gentleman, SM; (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging , 33 (4) 838.e7 - 838.11. 10.1016/j.neurobiolaging.2011.11.001.

Charlesworth, G; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; Rubio-Agusti, I; (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. The American Journal of Human Genetics , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024. Green open access

Guerreiro, RJ; Lohmann, E; Kinsella, E; Brás, JM; Luu, N; Gurunlian, N; Dursun, B; (2012) Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging , 33 (5) 1008.e17 - 1008.e23. 10.1016/j.neurobiolaging.2011.10.009.

Keller, MF; Saad, M; Bras, J; Bettella, F; Nicolaou, N; Simón-Sánchez, J; Mittag, F; (2012) Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet , 21 (22) 4996 - 5009. 10.1093/hmg/dds335.

Kojovic, M; Sheerin, U; Rubio-Agusti, I; Bras, J; Wood, N; Houlden, H; Hardy, J; (2012) Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan. In: NEUROLOGY.

Kojovic, M; Sheerin, UM; Rubio-Agusti, I; Saha, A; Bras, J; Gibbons, V; Palmer, R; (2012) Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. Mov Disord , 27 (14) pp. 1829-1830. 10.1002/mds.25199. Green open access

McNeill, A; Duran, R; Proukakis, C; Bras, J; Hughes, D; Mehta, A; Hardy, J; (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord , 27 (4) 526 - 532. 10.1002/mds.24945.

Sheerin, UM; Charlesworth, G; Bras, J; Guerreiro, R; Bhatia, K; Foltynie, T; Limousin, P; (2012) Screening for VPS35 mutations in Parkinson's disease. Neurobiol Aging , 33 (4) 838.e1 - 838.e5. 10.1016/j.neurobiolaging.2011.10.032.


Bras, JM; Singleton, AB; (2011) Exome sequencing in Parkinson's disease. CLIN GENET , 80 (2) 104 - 109. 10.1111/j.1399-0004.2011.01722.x.

Nalls, MA; Plagnol, V; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; Simon-Sanchez, J; (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. LANCET , 377 (9766) 641 - 649. 10.1016/S0140-6736(10)62345-8.

Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Green open access


Guerreiro, RJ; Baquero, M; Blesa, R; Boada, M; Bras, JM; Bullido, MJ; Calado, A; (2010) Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. NEUROBIOL AGING , 31 (5) 725 - 731. 10.1016/j.neurobiolaging.2008.06.012.

van de Leemput, J; Wavrant-De Vrieze, F; Rafferty, I; Bras, JM; Giunti, P; Fisher, EMC; Hardy, JA; (2010) Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series. MOVEMENT DISORD , 25 (6) 771 - 773. 10.1002/mds.22970.


Bras, J; Paisan-Ruiz, C; Guerreiro, R; Ribeiro, MH; Morgadinho, A; Januario, C; Sidransky, E; (2009) Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. NEUROBIOL AGING , 30 (9) 1515 - 1517. 10.1016/j.neurobiolaging.2007.11.016.

Bras, J; Simón-Sánchez, J; Federoff, M; Morgadinho, A; Januario, C; Ribeiro, M; Cunha, L; (2009) Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum Mol Genet , 18 (2) 341 - 346. 10.1093/hmg/ddn340.

Bras, JM; Singleton, A; (2009) Genetic susceptibility in Parkinson's disease. Biochim Biophys Acta , 1792 (7) 597 - 603. 10.1016/j.bbadis.2008.11.008.

Nalls, MA; Guerreiro, RJ; Simon-Sanchez, J; Bras, JT; Traynor, BJ; Gibbs, JR; Launer, L; (2009) Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease. NEUROGENETICS , 10 (3) 183 - 190. 10.1007/s10048-009-0182-4.

Neumann, J; Bras, J; Deas, E; O'Sullivan, SS; Parkkinen, L; Lachmann, RH; Li, A; (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. BRAIN , 132 1783 - 1794. 10.1093/brain/awp044. Gold open access

Neumann, J; Parkkinen, L; Bras, J; O'sullivan, SS; Deas, E; Lachmann, H; Li, A; (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 3 - 3). BLACKWELL PUBLISHING

Scholz, SW; Houlden, H; Schulte, C; Sharma, M; Li, A; Berg, D; Melchers, A; (2009) SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy. ANN NEUROL , 65 (5) 610 - 614. 10.1002/ana.21685.

Sidransky, E; Nalls, MA; Aasly, JO; Aharon-Peretz, J; Annesi, G; Barbosa, ER; Bar-Shira, A; (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med , 361 (17) 1651 - 1661. 10.1056/NEJMoa0901281.

Simon-Sanchez, J; Schulte, C; Bras, JM; Sharma, M; Gibbs, JR; Berg, D; Paisan-Ruiz, C; (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. NAT GENET , 41 (12) 1308 - U68. 10.1038/ng.487.


Bras, J; Guerreiro, R; Ribeiro, M; Morgadinho, A; Januario, C; Dias, M; Calado, A; (2008) Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurology , 8 , Article 1. 10.1186/1471-2377-8-1. Green open access

Bras, J; Singleton, A; Cookson, MR; Hardy, J; (2008) Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J , 275 (23) 5767 - 5773. 10.1111/j.1742-4658.2008.06709.x.

Bras, J; Singleton, A; Cookson, MR; Hardy, J; (2008) Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J , 275 (23) 5767 - 5773. 10.1111/j.1742-4658.2008.06709.x.

Camargos, S; Scholz, S; Simon-Sanchez, J; Paisan-Ruiz, C; Lewis, P; Hernandez, D; Ding, J; (2008) DYT16, a novel young-onset dystonia-parkinson ism disorder: identification of a segregating mutation in the stress-response protein PRKRA. LANCET NEUROL , 7 (3) 207 - 215. 10.1016/S1474-4422(08)70022-X.

Guerreiro, RJ; Santana, I; Bras, JM; Revesz, T; Rebelo, O; Ribeiro, MH; Santiago, B; (2008) Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases. MOVEMENT DISORD , 23 (9) 1269 - 1273. 10.1002/mds.22078.

Jakobsson, M; Scholz, SW; Scheet, P; Gibbs, JR; VanLiere, JM; Fung, HC; Szpiech, ZA; (2008) Genotype, haplotype and copy-number variation in worldwide human populations. NATURE , 451 (7181) 998 - 1003. 10.1038/nature06742.

Okubadejo, N; Britton, A; Crews, C; Akinyemi, R; Hardy, J; Singleton, A; Bras, J; (2008) Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. PLOS ONE , 3 (10) , Article e3421. 10.1371/journal.pone.0003421. Green open access


Guerreiro, RJ; Bras, JM; Santana, I; Januario, C; Santiago, B; Morgadinho, AS; Ribeiro, MH; (2006) Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. BMC Neurology , 6 , Article 24. 10.1186/1471-2377-6-24. Green open access


Bras, JM; Guerreiro, RJ; Ribeiro, MH; Januario, C; Morgadinho, A; Oliveira, CR; Cunha, L; (2005) G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. MOVEMENT DISORD , 20 (12) 1653 - 1655.

This list was generated on Thu Jul 23 20:11:45 2015 BST.

Page last modified on 20 mar 13 16:36