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...


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...

Una-Marie Sheerin

(Former Clinical Research Fellow)

I completed my medical training at St. George’s Hospital Medical School London in 2003. I first became interested in genetics whilst I was doing my intercalated BSc in Medical Genetics. I am currently on the speciality training program for Neurology and have a years training in Clinical Genetics.

I joined the Institute of Neurology in May 2010 as a Clinical Research Fellow. I am interested in neurogenetic disorders and neurodegeneration. My research will focus on identifying new genes for hereditary forms of Parkinson’s disease.

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Number of items: 17.


Sheerin, U; (2014) The Use of Next Generation Sequencing Technologies to Dissect the Aetiologies of Parkinson’s disease and Dystonia. Doctoral thesis, UCL (University College London). Green open access


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.

Rubio-Agusti, I; Pareés, I; Kojovic, M; Stamelou, M; Saifee, TA; Charlesworth, G; ... Bhatia, KP; + view all (2013) Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort. Parkinsonism Relat Disord , 19 (6) 634 - 638. 10.1016/j.parkreldis.2013.02.017.

Sheerin, UM; Stamelou, M; Charlesworth, G; Shiner, T; Spacey, S; Valente, EM; ... Bhatia, KP; + view all (2013) Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol , 260 (2) 656 - 660. 10.1007/s00415-012-6747-4.

Stamelou, M; Adams, M; Davagnanam, I; Batla, A; Sheerin, U; Talbot, K; Bhatia, KP; (2013) Progressive ataxia and palatal tremor associated with dense pontine calcification: A unique case. Mov Disord , 28 (8) pp. 1155-1157. 10.1002/mds.25310. Green and gold 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 and gold open access

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 and gold open access

Lescai, F; Bonfiglio, S; Bacchelli, C; Chanudet, E; Waters, A; Sisodiya, SM; ... Stupka, E; + view all (2012) Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One , 7 (12) , Article e51292 . 10.1371/journal.pone.0051292. Green and gold open access

Pittman, A; Mencacci, N; Sheerin, U; Charlesworth, G; Deborah, H; Haworth, A; ... Lees, A; + view all (2012) A comprehensive diagnostic test for familial and early onset Parkinson's disease based on next-generation sequencing. In: JOURNAL OF MEDICAL GENETICS. (pp. S122 - S122).

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.

Tucci, A; Charlesworth, G; Sheerin, UM; Plagnol, V; Wood, NW; Hardy, J; (2012) Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neurosci Lett , 518 (1) 19 - 22. 10.1016/j.neulet.2012.04.033. Green and gold open access

Wray, S; Self, M; NINDS Parkinson's Disease iPSC Consortium,; NINDS Huntington's Disease iPSC Consortium,; NINDS ALS iPSC Consortium,; Lewis, PA; ... Hardy, J; + view all (2012) Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLOS One , 7 (8) , Article e43099. 10.1371/journal.pone.0043099. Green and gold open access


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 and gold open access


Sheerin, UM; Barreto, J; Brown, MM; Brew, S; Losseff, NA; (2008) Subarachnoid haemorrhage as the first clinical manifestation of Churg-Strauss syndrome. J NEUROL , 255 (4) 607 - 608. 10.1007/s00415-008-0765-2.

This list was generated on Wed Dec 17 15:56:46 2014 GMT.

Page last modified on 10 feb 14 13:57