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...

Niccolo Mencacci

(Clinical Research Fellow)

Niccolo Mencacci

I trained in Medicine and qualified cum laude at the University of Milan in 2006. I subsequently worked as specialist registrar, from 2007 to 2012, in the Department of Neurology-Stroke Unit at the IRCCS Istituto Auxologico Italiano di Milano, directed By Professor Vincenzo Silani and qualified as specialist in Neurology in 2012. During these years of clinical work I developed a deep interest to understand the molecular bases of neurological disorders and in particular of neurodegenerative conditions.

This led me to join the lab of Professor Hardy and Professor Wood. I was appointed as clinical research associate in the Department of Molecular Neuroscience at UCL Institute of Neurology in September 2012, where I am hoping to complete my PhD.

The predominant focus of my research is genetics of familial degenerative and non-degenerative movement disorders, such as Parkinson disease and dystonia.


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Number of items: 19.


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.

Kefalopoulou, Z; Politis, M; Piccini, P; Mencacci, N; Bhatia, K; Jahanshahi, M; ... Foltynie, T; + view all (2014) Long-term clinical outcome of fetal cell transplantation for Parkinson disease: two case reports. JAMA Neurol , 71 (1) 83 - 87. 10.1001/jamaneurol.2013.4749.

Macerollo, A; Mencacci, NE; Erro, R; Cordivari, C; Edwards, MJ; Wood, NW; Bhatia, KP; (2014) Screening of mutations in NOL3 in a myoclonic syndromes series. J Neurol , 261 (9) pp. 1830-1831. 10.1007/s00415-014-7463-z. Green open access

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

Sadnicka, A; Teo, JT; Kojovic, M; Pareés, I; Saifee, TA; Kassavetis, P; ... Bhatia, KP; + view all (2014) All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia. Eur J Neurol 10.1111/ene.12521.


Angeli, A; Mencacci, NE; Duran, R; Aviles-Olmos, I; Kefalopoulou, Z; Candelario, J; ... Foltynie, T; + view all (2013) Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation. Movement Disorders , 28 (10) pp. 1370-1375. 10.1002/mds.25535. Green open access

Batla, A; Stamelou, M; Mencacci, N; Schapira, AH; Bhatia, KP; (2013) Ropinirole monotherapy induced severe reversible dyskinesias in Parkinson's disease. Mov Disord , 28 (8) 1159 - 1160. 10.1002/mds.25318. Green open access

Doherty, KM; Silveira-Moriyama, L; Parkkinen, L; Healy, DG; Farrell, M; Mencacci, NE; ... Holton, JL; + view all (2013) Parkin disease: a clinicopathologic entity? JAMA Neurol , 70 (5) 571 - 579. 10.1001/jamaneurol.2013.172.

Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; ... Foltynie, T; + view all (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders , 28 (2) 232 - 236. 10.1002/mds.25248. Green open access

Hersheson, J; Mencacci, NE; Davis, M; MacDonald, N; Trabzuni, D; Ryten, M; ... Houlden, H; + view all (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol , 73 (4) 546 - 553. 10.1002/ana.23832.

McNeill, A; Wu, RM; Tzen, KY; Aguiar, PC; Arbelo, JM; Barone, P; ... Schapira, AH; + view all (2013) Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. PLOS ONE , 8 (7) , Article e69190. 10.1371/journal.pone.0069190. Green open access

Ticozzi, N; Tiloca, C; Mencacci, NE; Morelli, C; Doretti, A; Rusconi, D; ... Silani, V; + view all (2013) Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations. Journal of Neurology , 260 (1) 85 - 92. 10.1007/s00415-012-6589-0.

Winder-Rhodes, SE; Evans, JR; Ban, M; Mason, SL; Williams-Gray, CH; Foltynie, T; ... Barker, RA; + view all (2013) Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain , 136 (Pt 2) 392 - 399. 10.1093/brain/aws318.


Stamelou, M; Mencacci, NE; Cordivari, C; Batla, A; Wood, NW; Houlden, H; ... Bhatia, KP; + view all (2012) Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology , 79 (5) 435 - 441. 10.1212/WNL.0b013e318261714a. Gold open access


Ciammola, A; Sassone, J; Poletti, B; Mencacci, N; Benti, R; Silani, V; (2011) Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease. Case Reports in Neurological Medicine , 2011 1 - 3. 10.1155/2011/696953. Gold open access

Ciammola, A; Sassone, J; Sciacco, M; Mencacci, NE; Ripolone, M; Bizzi, C; ... Malfatto, G; + view all (2011) Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease. Movement Disorders , 26 (1) 130 - 137. 10.1002/mds.23258.

Mencacci, NE; Bersano, A; Cinnante, CM; Ciammola, A; Corti, S; Meroni, PL; Silani, V; (2011) Intracerebral haemorrhage, a possible presentation in Churg-Strauss syndrome: Case report and review of the literature. Journal of the Neurological Sciences , 301 (1-2) 107 - 111. 10.1016/j.jns.2010.10.016.


Bossolasco, P; Cova, L; Calzarossa, C; Servida, F; Mencacci, NE; Onida, F; ... Silani, V; + view all (2010) Metalloproteinase alterations in the bone marrow of ALS patients. Journal of Molecular Medicine , 88 (6) 553 - 564. 10.1007/s00109-009-0584-7.


Ciammola, A; Sassone, J; Mencacci, N; Colciago, C; Squitieri, F; Silani, V; ... Ciarmiello, A; + view all (2008) Aripiprazole in the treatment of Huntington’s disease: a case series. Neuropsychiatric Disease and Treatment 1 - 1. 10.2147/NDT.S4165.

This list was generated on Sun Mar 29 00:52:31 2015 GMT.

Page last modified on 10 feb 14 13:54