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.

Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials


Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).

Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

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; ... Vercelletto, M; + view all (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.


Benitez, BA; Jin, SC; Guerreiro, R; Graham, R; Lord, J; Harold, D; ... Cruchaga, C; + view all (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; ... Hardy, J; + view all (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.

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; ... Williams, DR; + view all (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; ... Goate, AM; + view all (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; ... Bhatia, KP; + view all (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; ... Bostantjopoulou, S; + view all (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; ... Singleton, AB; + view all (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; ... on behalf of the International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium,; + view all (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain , 137 (9) pp. 2480-2492. 10.1093/brain/awu179. Green open access

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

Nalls, MA; Pankratz, N; Lill, CM; Do, CB; Hernandez, DG; Saad, M; ... Singleton, AB; + view all (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; ... Hardy, J; + view all (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; ... Hardy, J; + view all (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; ... Ryten, M; + view all (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; ... Emre, M; + view all (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; ... Mole, SE; + view all (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; ... Houlden, H; + view all (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; ... Alzheimer Genetic Analysis Group,; + view all (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; ... Grp, AGA; + view all (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; ... Hardy, J; + view all (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; ... Williams, NM; + view all (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; ... Wood, NW; + view all (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; ... French Clinical and Genetic Research Network on FTD/FTD-ALS,; + view all (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; ... IPDGC and GERAD Investigators,; + view all (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; ... Sidransky, E; + view all (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; ... Wood, NW; + view all (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; ... Wood, NW; + view all (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; ... Singleton, A; + view all (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; ... Wellcome Trust Case Control Consortium 2 (WTCCC2),; + view all (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; ... Bhatia, K; + view all (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; ... Bhatia, KP; + view all (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; ... Schapira, AH; + view all (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; ... Wood, N; + view all (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; ... Wellcome Trust Case-Control Consor,; + view all (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; ... WTCCC2,; + view all (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; ... Clarimon, J; + view all (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; ... Houlden, H; + view all (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; ... Singleton, A; + view all (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; ... Singleton, AB; + view all (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; ... Singleton, AB; + view all (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; ... Wood, NW; + view all (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; ... Wood, NW; + view all (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; ... Gasser, T; + view all (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; ... Ziegler, SG; + view all (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; ... Gasser, T; + view all (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; ... Singleton, A; + view all (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; ... Singleton, AB; + view all (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; ... Hardy, J; + view all (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; ... Singleton, AB; + view all (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; ... Oliveira, C; + view all (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; ... Singleton, A; + view all (2005) G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. MOVEMENT DISORD , 20 (12) 1653 - 1655.

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