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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...


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Bettencourt, C., Ryten, M., Forabosco, P., Schorge, S., Hersheson, J., Hardy, J., Houlden, H., for the United Kingdom Brain Expression Consortium, 2014. Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia. JAMA Neurology.

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Charlesworth, G., Bhatia, K., Wood, N., 2014. No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. Mov Disord 29, 154–155.

Civiero, L., Dihanich, S., Lewis, P.A., Greggio, E., 2014. Genetic, Structural, and Molecular Insights into the Function of Ras of Complex Proteins Domains. Chemistry & Biology. doi:10.1016/j.chembiol.2014.05.010

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Cooper, J.M., Wiklander, P.B.O., Nordin, J.Z., Al-Shawi, R., Wood, M.J., Vithlani, M., Schapira, A.H.V., Simons, J.P., El-Andaloussi, S., Alvarez-Erviti, L., 2014. Systemic exosomal siRNA delivery reduced alpha-synuclein aggregates in brains of transgenic mice. Movement Disorders. doi:10.1002/mds.25978

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Deas, E., Piipari, K., Machhada, A., Li, A., Gutierrez-del-Arroyo, A., Withers, D.J., Wood, N.W., Abramov, A.Y., 2014. PINK1 deficiency in ß-cells increases basal insulin secretion and improves glucose tolerance in mice. Open Biology 4. doi:10.1098/rsob.140051

Ferrari, R., Ryten, M., Simone, R., Trabzuni, D., Nicolaou, N., Hondhamuni, G., Ramasamy, A., Vandrovcova, J., Weale, M.E., Lees, A.J., Momeni, P., Hardy, J., de Silva, R., 2014. Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiology of Aging 35, 1514.e1–1514.e12. doi:10.1016/j.neurobiolaging.2014.01.010

Gómez-Sánchez, R., Gegg, M., Bravo-San Pedro, J., Niso-Santano, M., Alvarez-Erviti, L., Pizarro-Estrella, E., Gutiérrez-Martín, Y., Alvarez-Barrientos, A., Fuentes, J., González-Polo, R., Schapira, A., 2014. Mitochondrial impairment increases FL-PINK1 levels by calcium-dependent gene expression. Neurobiol Dis.

Guerreiro, R., Brás, J., Hardy, J., Singleton, A., 2014. Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Human Molecular Genetics. doi:10.1093/hmg/ddu203

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. Neurobiology of Aging. doi:10.1016/j.neurobiolaging.2014.05.013

Johnson, J., Pioro, E., Boehringer, A., Chia, R., Feit, H., Renton, A., Pliner, H., Abramzon, Y., Marangi, G., Winborn, B., Gibbs, J., Nalls, M., Morgan, S., Shoai, M., Hardy, J., Pittman, A., Orrell, R., Malaspina, A., Sidle, K., Fratta, P., Harms, M., Baloh, R., Pestronk, A., Weihl, C., Rogaeva, E., Zinman, L., Drory, V., Borghero, G., Mora, G., Calvo, A., Rothstein, J., null, Drepper, C., Sendtner, M., Singleton, A., Taylor, J., Cookson, M., Restagno, G., Sabatelli, M., Bowser, R., Chiò, A., Traynor, B., 2014. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci 17, 664–666.

Kara, E., Xiromerisiou, G., Spanaki, C., Bozi, M., Koutsis, G., Panas, M., Dardiotis, E., Ralli, S., Bras, J., Letson, C., Edsall, C., Pliner, H., Arepalli, S., Kalinderi, K., Fidani, L., Bostantjopoulou, S., Keller, M., Wood, N., Hardy, J., Houlden, H., Stefanis, L., Plaitakis, A., Hernandez, D., Hadjigeorgiou, G., Nalls, M., Singleton, A., 2014. Assessment of Parkinson’s disease risk loci in Greece. Neurobiol Aging 35, 442.e9–442.e16.

Karran, E., Hardy, J., 2014. A critique of the drug discovery and phase 3 clinical programs targeting the amyloid hypothesis for Alzheimer disease. Annals of Neurology. doi:10.1002/ana.24188

Kazlauskaite, A., Kondapalli, C., Gourlay, R., Campbell, D.G., Ritorto, M.S., Hofmann, K., Alessi, D.R., Knebel, A., Trost, M., Muqit, M.M.K., 2014. Parkin is activated by PINK1-dependent phosphorylation of ubiquitin at Ser65. Biochemical Journal 460, 127–139.

Kefalopoulou, Z., Politis, M., Piccini, P., Mencacci, N., Bhatia, K., Jahanshahi, M., Widner, H., Rehncrona, S., Brundin, P., Björklund, A., Lindvall, O., Limousin, P., Quinn, N., Foltynie, T., 2014. Long-term Clinical Outcome of Fetal Cell Transplantation for Parkinson Disease: Two Case Reports. JAMA Neurol 71, 83–87.

Le Ber, I., De Septenville, A., Guerreiro, R., Bras, J., Camuzat, A., Caroppo, P., Lattante, S., Couarch, P., Kabashi, E., Bouya-Ahmed, K., Dubois, B., Brice, A., 2014. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. Neurobiology of Aging. doi:10.1016/j.neurobiolaging.2014.04.010

Ling, H., Kara, E., Revesz, T., Lees, A., Plant, G., Martino, D., Houlden, H., Hardy, J., Holton, J., 2014. Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. Acta Neuropathol Commun 2, 24.

Ludtmann, M., Angelova, P., Zhang, Y., Abramov, A., Dinkova-Kostova, A., 2014. Nrf2 affects the efficiency of mitochondrial fatty acid oxidation. Biochem J 457, 415–424.

Mamais, A., Chia, R., Beilina, A., Hauser, D.N., Hall, C., Lewis, P.A., Cookson, M.R., Bandopadhyay, R., 2014. Arsenite Stress Downregulates Phosphorylation and 14-3-3 Binding of Leucine-rich Repeat Kinase 2 (LRRK2) Promoting Self-Association and Cellular Redistribution. Journal of Biological Chemistry. doi:10.1074/jbc.M113.528463

McNeill, A., Magalhaes, J., Shen, C., Chau, K., Hughes, D., Mehta, A., Foltynie, T., Cooper, J., Abramov, A., Gegg, M., Schapira, A., 2014. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain.

Mencacci, N.E., Isaias, I.U., Reich, M.M., Ganos, C., Plagnol, V., Polke, J.M., Bras, J., Hersheson, J., Stamelou, M., Pittman, A.M., Noyce, A.J., Mok, K.Y., Opladen, T., Kunstmann, E., Hodecker, S., Münchau, A., Volkmann, J., Samnick, S., Sidle, K., Nanji, T., Sweeney, M.G., Houlden, H., Batla, A., Zecchinelli, A.L., Pezzoli, G., Marotta, G., Lees, A., Alegria, P., Krack, P., Cormier-Dequaire, F., Lesage, S., Brice, A., Heutink, P., Gasser, T., Lubbe, S.J., Morris, H.R., Taba, P., Koks, S., Majounie, E., Raphael Gibbs, J., Singleton, A., Hardy, J., Klebe, S., Bhatia, K.P., Wood, N.W., 2014. Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers. Brain. doi:10.1093/brain/awu179

Narayan, P., Holmström, K., Kim, D., Whitcomb, D., Wilson, M., St George-Hyslop, P., Wood, N., Dobson, C., Cho, K., Abramov, A., Klenerman, D., 2014. Rare Individual Amyloid-ß Oligomers Act on Astrocytes to Initiate Neuronal Damage. Biochemistry 53, 2442–2453.

Proukakis, C., Shoaee, M., Morris, J., Brier, T., Kara, E., Sheerin, U.-M., Charlesworth, G., Tolosa, E., Houlden, H., Wood, N.W., Schapira, A.H., 2014. Analysis of Parkinson’s disease brain–derived DNA for alpha-synuclein coding somatic mutations. Mov Disord doi:10.1002/mds.25883

Sassi, C., Guerreiro, R., Gibbs, R., Ding, J., Lupton, M.K., Troakes, C., Al-Sarraj, S., Niblock, M., Gallo, J.-M., Adnan, J., Killick, R., Brown, K.S., Medway, C., Lord, J., Turton, J., Bras, J., Morgan, K., Powell, J.F., Singleton, A., Hardy, J., 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. Neurobiology of Aging. doi:10.1016/j.neurobiolaging.2014.06.002

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Sheerin, U., Schneider, S., Carr, L., Deuschl, G., Hopfner, F., Stamelou, M., Wood, N., Bhatia, K., 2014. ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology.

Stamelou, M., Charlesworth, G., Cordivari, C., Schneider, S., Kägi, G., Sheerin, U., Rubio-Agusti, I., Batla, A., Houlden, H., Wood, N., Bhatia, K., 2014. The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord.

Tsika, E., Glauser, L., Moser, R., Fiser, A., Daniel, G., Sheerin, U., Lees, A., Troncoso, J., Lewis, P., Bandopadhyay, R., Schneider, B., Moore, D., 2014. Parkinson’s Disease-Linked Mutations in VPS35 Induce Dopaminergic Neurodegeneration. Hum Mol Genet.

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Wiethoff, S., Xiromerisiou, G., Bettencourt, C., Kioumi, A., Tsiptsios, I., Tychalas, A., Evaggelia, M., George, K., Makris, V., Hardy, J., Houlden, H., 2014. Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis. J Neurol Sci.



Alvarez-Erviti, L., Seow, Y., Schapira, A., Rodriguez-Oroz, M., Obeso, J., Cooper, J., 2013. Influence of microRNA deregulation on chaperone-mediated autophagy and a-synuclein pathology in Parkinson’s disease. Cell Death Dis 4, e545. 

Angeli, A., Mencacci, N., Duran, R., Aviles-Olmos, I., Kefalopoulou, Z., Candelario, J., Rusbridge, S., Foley, J., Pradhan, P., Jahanshahi, M., Zrinzo, L., Hariz, M., Wood, N., Hardy, J., Limousin, P., Foltynie, T., 2013. Genotype and phenotype in Parkinson’s disease: Lessons in heterogeneity from deep brain stimulation. Mov Disord.

Bartolome, F., Wu, H., Burchell, V., Preza, E., Wray, S., Mahoney, C., Fox, N., Calvo, A., Canosa, A., Moglia, C., Mandrioli, J., Chiò, A., Orrell, R., Houlden, H., Hardy, J., Abramov, A., Plun-Favreau, H., 2013. Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron 78, 57–64.

Batla, A., Stamelou, M., Mencacci, N., Schapira, A., Bhatia, K., 2013. Ropinirole monotherapy induced severe reversible dyskinesias in Parkinson’s disease. Mov Disord.

Bettencourt, C., Morris, H., Singleton, A., Hardy, J., Houlden, H., 2013. Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. J Neurol.

Bras, J., 2013. Lysosomal storage disorders and iron. Int Rev Neurobiol 110, 251–275.

Burchell, V., Nelson, D., Sanchez-Martinez, A., Delgado-Camprubi, M., Ivatt, R., Pogson, J., Randle, S., Wray, S., Lewis, P., Houlden, H., Abramov, A., Hardy, J., Wood, N., Whitworth, A., Laman, H., Plun-Favreau, H., 2013. The Parkinson’s disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nat Neurosci 16, 1257–1265.

Charlesworth, G., Bhatia, K., 2013. Primary and secondary dystonic syndromes: an update. Curr Opin Neurol 26, 406–412.

Charlesworth, G., Bhatia, K., Wood, N., 2013. The genetics of dystonia: new twists in an old tale. Brain 136, 2017–2037.

Charlesworth, G., Mohire, M., Schneider, S., Stamelou, M., Wood, N., Bhatia, K., 2013. Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology 81, 1148–1151.

Chau, K., Cooper, J., Schapira, A., 2013. Pramipexole Reduces Phosphorylation of a-Synuclein at Serine-129. J Mol Neurosci

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Davies, P., Hinkle, K., Sukar, N., Sepulveda, B., Mesias, R., Serrano, G., Alessi, D., Beach, T., Benson, D., White Iii, C., Cowell, R., Das, S., West, A., Melrose, H., 2013. Comprehensive Characterization and Optimization of Leucine Rich Repeat Kinase 2 (LRRK2) Monoclonal Antibodies. Biochem J.

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Doherty, K., Hardy, J., 2013. Parkin disease and the Lewy body conundrum. Mov Disord.

Doherty, K.M., Silveira-Moriyama, L., Parkkinen, L., Healy, D.G., Farrell, M., Mencacci, N.E., Ahmed, Z., Brett, F.M., Hardy, J., Quinn, N., Counihan, T.J., Lynch, T., Fox, Z.V., Revesz, T., Lees, A.J., Holton, J.L., 2013. Parkin Disease: A Clinicopathologic Entity? JAMA Neurol 1–9.

Dunn, L., Allen, G., Mamais, A., Ling, H., Li, A., Duberley, K., Hargreaves, I., Pope, S., Holton, J., Lees, A., Heales, S., Bandopadhyay, R., 2013. Dysregulation of glucose metabolism is an early event in sporadic Parkinson’s disease. Neurobiol Aging.

Forabosco, P., Ramasamy, A., Trabzuni, D., Walker, R., Smith, C., Bras, J., Levine, A., Hardy, J., Pocock, J., Guerreiro, R., Weale, M., Ryten, M., 2013. Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol Aging.

Guerreiro, R., Bilgic, B., Guven, G., Brás, J., Rohrer, J., Lohmann, E., Hanagasi, H., Gurvit, H., Emre, M., 2013. A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiol Aging 34, 2890.e1–5.

Guerreiro, R., Bras, J., Vieira, M., Warrier, V., Agrawal, S., Stewart, H., Anderson, G., Mole, S., 2013. CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. Eur J Paediatr Neurol.

Guerreiro, R., Kara, E., Le Ber, I., Bras, J., Rohrer, J., Taipa, R., Lashley, T., Dupuits, C., Gurunlian, N., Mochel, F., Warren, J., Hannequin, D., Sedel, F., Depienne, C., Camuzat, A., Golfier, V., Du Boisguéheneuc, F., Schottlaender, L., Fox, N., Beck, J., Mead, S., Rossor, M., Hardy, J., Revesz, T., Brice, A., Houlden, H., 2013. Genetic Analysis of Inherited Leukodystrophies: Genotype-Phenotype Correlations in the CSF1R Gene. JAMA Neurol 1–9.

Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J., Younkin, S., Hazrati, L., Collinge, J., Pocock, J., Lashley, T., Williams, J., Lambert, J., Amouyel, P., Goate, A., Rademakers, R., Morgan, K., Powell, J., St George-Hyslop, P., Singleton, A., Hardy, J., Alzheimer Genetic Analysis Group, 2013. TREM2 variants in Alzheimer’s disease. N Engl J Med 368, 117–127.

Hammer, M.B., Eleuch-Fayache, G., Schottlaender, L.V., Nehdi, H., Gibbs, J.R., Arepalli, S.K., Chong, S.B., Hernandez, D.G., Sailer, A., Liu, G., Mistry, P.K., Cai, H., Shrader, G., Sassi, C., Bouhlal, Y., Houlden, H., Hentati, F., Amouri, R., Singleton, A.B., 2013. Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity. The American Journal of Human Genetics 92, 245–251.

Hardy, J., 2013. Psychiatric genetics: are we there yet? JAMA Psychiatry 70, 569–570.

Haskin, J., Szargel, R., Shani, V., Mekies, L.N., Rott, R., Lim, G.G.Y., Lim, K.-L., Bandopadhyay, R., Wolosker, H., Engelender, S., 2013. AF-6 is a positive modulator of the PINK1/parkin pathway and is deficient in Parkinson’s disease. Human Molecular Genetics.

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