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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.

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: 40.


Bandres-Ciga, S; Mencacci, NE; Duran, R; Javier Barrero, F; Escamilla-Sevilla, F; Morgan, S; Hehir, J; (2016) Analysis of the genetic variability in Parkinson's disease from Southern Spain. NEUROBIOLOGY OF AGING , 37 (ARTN 210) 10.1016/j.neurobiolaging.2015.09.020.

Celardo, I; Costa, AC; Lehmann, S; Jones, C; Wood, N; Mencacci, NE; Mallucci, GR; (2016) Mitofusin-mediated ER stress triggers neurodegeneration in pink1/parkin models of Parkinson's disease. Cell Death Dis , 7 (6) , Article e2271. 10.1038/cddis.2016.173.

Charlesworth, G; Balint, B; Mencacci, NE; Carr, L; Wood, NW; Bhatia, KP; (2016) SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy. Mov Disord , 31 (8) pp. 1249-1251. 10.1002/mds.26716.

Mencacci, NE; (2016) The Endless Expansion of the Phenotypic Spectrum of ATP1A3 Mutations: A True Diagnostic Challenge. Movement Disorders Clinical Practice , 3 (4) pp. 395-397. 10.1002/mdc3.12358.

Mencacci, NE; Carecchio, M; (2016) Recent advances in genetics of chorea. Current Opinion in Neurology , 29 (4) pp. 486-495. 10.1097/WCO.0000000000000352.

Mencacci, NE; Kamsteeg, EJ; Nakashima, K; R'Bibo, L; Lynch, DS; Balint, B; Willemsen, MA; (2016) De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. The American Journal of Human Genetics , 98 (4) pp. 763-771. 10.1016/j.ajhg.2016.02.015. Green open access

Mok, KY; Sheerin, U; Simón-Sánchez, J; Salaka, A; Chester, L; Escott-Price, V; Mantripragada, K; (2016) Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Lancet Neurology , 15 (6) pp. 585-596. 10.1016/S1474-4422(16)00071-5. Green open access

Morgan, JC; Kurek, JA; Davis, J; Sethi, KD; Mencacci, NE; Erro, R; Bhatia, KP; (2016) ADCY5 mutations are another cause of benign hereditary chorea. Neurology , 86 (10) pp. 978-979. 10.1212/WNL.0000000000002479.


Antelmi, E; Erro, R; Pisani, A; Mencacci, N; Bhatia, KP; (2015) Persistent chorea in DYT6, due to anticholinergic therapy. PARKINSONISM & RELATED DISORDERS , 21 (10) pp. 1282-1283. 10.1016/j.parkreldis.2015.07.024.

Batla, A; Adams, ME; Erro, R; Ganos, C; Balint, B; Mencacci, NE; Bhatia, KP; (2015) CORTICAL PENCIL LINING IN NEUROFERRITINOPATHY: A DIAGNOSTIC CLUE. NEUROLOGY , 84 (17) pp. 1816-1818. 10.1212/WNL.0000000000001511.

Erro, R; Hersheson, J; Ganos, C; Mencacci, NE; Stamelou, M; Batla, A; Thust, SC; (2015) H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? MOVEMENT DISORDERS , 30 (6) pp. 828-833. 10.1002/mds.26129.

Mencacci, NE; Erro, R; Wiethoff, S; Hersheson, J; Ryten, M; Balint, B; Ganos, C; (2015) ADCY5 mutations are another cause of benign hereditary chorea. Neurology , 85 (1) pp. 80-88. 10.1212/WNL.0000000000001720. Green open access

Mencacci, NE; Pittman, AM; Isaias, IU; Hardy, J; Klebe, S; Bhatia, KP; Wood, NW; (2015) Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. [Review]. Brain , 138 (5) e352-e352. 10.1093/brain/awu309. Green open access

Mencacci, NE; R'bibo, L; Bandres-Ciga, S; Carecchio, M; Zorzi, G; Nardocci, N; Garavaglia, B; (2015) The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Human Molecular Genetics , 24 (18) pp. 5326-5329. 10.1093/hmg/ddv255. Green open access

Mencacci, NE; Rubio-Agusti, I; Zdebik, A; Asmus, F; Ludtmann, MH; Ryten, M; Plagnol, V; (2015) A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet , 96 (6) pp. 938-947. 10.1016/j.ajhg.2015.04.008. Green open access

Noyce, AJ; Mencacci, NE; Schrag, A; Bestwick, JP; Giovannoni, G; Lees, AJ; Hardy, J; (2015) Web-based assessment of Parkinson's prodromal markers identifies GBA variants. Mov Disord , 30 (7) pp. 1002-1003. 10.1002/mds.26249. Green open access

Praschberger, R; Balint, B; Mencacci, NE; Hersheson, J; Rubio-Agusti, I; Kullmann, DM; Bettencourt, C; (2015) Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene. Movement Disorders Clinical Practice , 2 (3) pp. 271-273. 10.1002/mdc3.12190.

Sadnicka, A; Teo, JT; Kojovic, M; Parees, I; Saifee, TA; Kassavetis, P; Schwingenschuh, P; (2015) All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia. EUROPEAN JOURNAL OF NEUROLOGY , 22 (5) pp. 762-767. 10.1111/ene.12521.


Ganos, C; Mencacci, N; Gardiner, A; Erro, R; Batla, A; Houlden, H; Bhatia, KP; (2014) Paroxysmal Kinesigenic Dyskinesia May Be Misdiagnosed in Co-occurring Gilles de la Tourette Syndrome. Movement Disorders Clinical Practice , 1 (1) 84 - 86. 10.1002/mdc3.12001.

Kefalopoulou, Z; Politis, M; Piccini, P; Mencacci, N; Bhatia, K; Jahanshahi, M; Widner, H; (2014) Long-term Clinical Outcome of Fetal Cell Transplantation for Parkinson Disease Two Case Reports. JAMA NEUROLOGY , 71 (1) pp. 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; 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


Angeli, A; Mencacci, NE; Duran, R; Aviles-Olmos, I; Kefalopoulou, Z; Candelario, J; Rusbridge, S; (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; Ahmed, Z; (2013) Parkin disease: a clinicopathologic entity? JAMA Neurol , 70 (5) pp. 571-579. 10.1001/jamaneurol.2013.172.

Doherty, KM; Silveira-Moriyama, L; Parkkinen, L; Healy, DG; Farrell, M; Mencacci, NE; Ahmed, Z; (2013) Parkin disease - a clinicopathological entity? In: (Proceedings) 114th Meeting of the British-Neuropathological-Society / Symposium on Advances in Motor Neuron Diseases. (pp. pp. 11-12). WILEY-BLACKWELL

Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; Mehta, A; (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; Pittman, A; (2013) Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. ANNALS OF NEUROLOGY , 73 (4) pp. 546-553. 10.1002/ana.23832.

McNeill, A; Wu, RM; Tzen, KY; Aguiar, PC; Arbelo, JM; Barone, P; Bhatia, K; (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; Colombrita, C; (2013) Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations. Journal of Neurology , 260 (1) pp. 85-92. 10.1007/s00415-012-6589-0.

Winder-Rhodes, SE; Evans, JR; Ban, M; Mason, SL; Williams-Gray, CH; Foltynie, T; Duran, R; (2013) Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. BRAIN , 136 pp. 392-399. 10.1093/brain/aws318.


Pittman, A; Mencacci, N; Sheerin, U; Charlesworth, G; Deborah, H; Haworth, A; Sweeney, M; (2012) A comprehensive diagnostic test for familial and early onset Parkinson's disease based on next-generation sequencing. In: (Proceedings) British Human Genetics Conference. (pp. S122-S122). BMJ PUBLISHING GROUP

Polke, J; Mencacci, N; Stamelou, M; Sweeney, MG; Manji, H; Wood, NW; Bhatia, KP; (2012) Transcript analysis of a variably-penetrant GTP cyclohydrolase intronic splicing mutation. In: (Proceedings) British Human Genetics Conference. (pp. S92-S92). BMJ PUBLISHING GROUP

Schottlaender, LV; Mencacci, N; Koepp, M; Hanna, M; Hardy, J; Lees, AJ; Houlden, H; (2012) Interesting clinical features associated with mutations in the SLC20A2 gene. In: (Proceedings) 16th Congress of the European-Federation-of-Neurological-Societies (EFNS). (pp. p. 40). WILEY-BLACKWELL

Stamelou, M; Mencacci, NE; Cordivari, C; Batla, A; Wood, NW; Houlden, H; Hardy, J; (2012) Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. NEUROLOGY , 79 (5) pp. 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 pp. 1-3. 10.1155/2011/696953. Gold open access

Ciammola, A; Sassone, J; Sciacco, M; Mencacci, NE; Ripolone, M; Bizzi, C; Colciago, C; (2011) Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease. Movement Disorders , 26 (1) pp. 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) pp. 107-111. 10.1016/j.jns.2010.10.016.


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


Ciammola, A; Sassone, J; Mencacci, N; Colciago, C; Squitieri, F; Silani, V; Poletti, B; (2008) Aripiprazole in the treatment of Huntington's disease: a case series. Neuropsychiatric Disease and Treatment , 5 pp. 1-4. 10.2147/NDT.S4165.

This list was generated on Sun Oct 23 16:10:40 2016 BST.

Page last modified on 10 feb 14 13:54