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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).
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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...

Autophagy

LRRK2 and autophagy

Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...

GBA neurons

GBA and mitochondria

Dr Laura Osellame tells us about her recent paper in Cell Metabolism about Mitochondrial dysfunction linked to loss of an enzyme called GBA: Gaucher Disease (GD) is a rare inherited disease, belonging to the family of lysosomal storage disorders. Mutations in the gene glucocerebrosidase (GBA) are responsible for the disease and can increase susceptibility to Parkinson’s disease (PD). Genetic studies undertaken at UCL and other hospitals around the world suggest that mutations in GBA are the most common genetic risk factor currently known for PD. More...

Image of alpha-synuclein

Alpha-synuclein in LRRK2 brains

First author Adamantios Mamais tells us about his recent publication in Neurobiology of Disease: At the Queen Square Brain Bank (part of the UCL Institute of Neurology) we hold a large collection of post-mortem human brain tissue from patients with neurodegenerative diseases including Parkinson’s disease (PD); a debilitating neurological disorder that affects the central nervous system. In the United States alone about 50,000 new cases are reported every year. The main symptoms include tremor, slow movement, rigid limbs and a shuffling gait while these worsen with time. 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.

esearcherID


Contact details

Link to Publications
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Jump to: 2013 | 2012 | 2011 | 2010 | 2008
Number of items: 15.

2013

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
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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.

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. Mov Disord , 28 (2) 232 - 236. 10.1002/mds.25248.

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.

Kefalopoulou, Z; Politis, M; Piccini, P; Mencacci, N; Bhatia, K; Jahanshahi, M; ... Foltynie, T; + view all (2013) Long-term Clinical Outcome of Fetal Cell Transplantation for Parkinson Disease: Two Case Reports. JAMA Neurol 10.1001/jamaneurol.2013.4749.

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 and gold open access
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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.

2012

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

2011

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.

2010

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.

2008

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 Sat Apr 19 05:25:18 2014 BST.

Page last modified on 10 feb 14 13:54