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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.

Gavin Charlesworth

(Former Clinical Research Fellow)

My initial medical training took place at King’s College London and included an intercalated BSc (Hons) in Neuroscience. After my qualification in 2003, my continued interest in the brain led me to seek posts which would help me secure a place on the specialty training program for neurology, which I succeeded in obtaining in 2008. My predominant interests within the field of neurology are movement disorders, neurodegeneration and genetics and so, when the opportunity to do some research in the genetics of Parkinson’s disease arose, I jumped ship and re-entered the world of science! I am currently a Clinical Research Fellow at the Institute of Neurology where I hope to complete my PhD.

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Number of items: 19.


Charlesworth, G; Angelova, PR; Bartolomé-Robledo, F; Ryten, M; Trabzuni, D; Stamelou, M; Abramov, AY; (2015) Mutations in HPCA cause autosomal-recessive primary isolated dystonia. American Journal of Human Genetics , 96 (4) pp. 657-665. 10.1016/j.ajhg.2015.02.007. Green open access


Charlesworth, G; Bhatia, KP; Wood, NW; (2014) No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. Mov Disord , 29 (1) pp. 154-155. 10.1002/mds.25713. Green open access

Proukakis, C; Shoaee, M; Morris, J; Brier, T; Kara, E; Sheerin, UM; Charlesworth, G; (2014) Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord , 29 (8) 060-1064. 10.1002/mds.25883. Green open access

Stamelou, M; Charlesworth, G; Cordivari, C; Schneider, SA; Kägi, G; Sheerin, UM; Rubio-Agusti, I; (2014) The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord , 29 (7) pp. 928-934. 10.1002/mds.25802. Green open access


Charlesworth, G; Bhatia, KP; (2013) Primary and secondary dystonic syndromes: an update. Curr Opin Neurol , 26 (4) pp. 406-412. 10.1097/WCO.0b013e3283633696. Green open access

Charlesworth, G; Bhatia, KP; Wood, NW; (2013) The genetics of dystonia: new twists in an old tale. Brain , 136 (7) 2017 - 2037. 10.1093/brain/awt138. Green open access

Charlesworth, G; Mohire, MD; Schneider, SA; Stamelou, M; Wood, NW; Bhatia, KP; (2013) Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology , 81 (13) pp. 1148-1151. 10.1212/WNL.0b013e3182a55fa2.

Cooper-Knock, J; Frolov, A; Highley, JR; Charlesworth, G; Kirby, J; Milano, A; Hartley, J; (2013) C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study. Neurology , 81 (9) pp. 808-811. 10.1212/WNL.0b013e3182a2cc38.

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

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


Charlesworth, G; Gandhi, S; Bras, JM; Barker, RA; Burn, DJ; Chinnery, PF; Gentleman, SM; (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; Rubio-Agusti, I; (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 open access

Charlesworth, G; Wood, NW; (2012) Mutations in nuclear genes that affect mitochondrial function in parkinson’s disease. In: Mitochondrial Dysfunction in Neurodegenerative Disorders. (pp. 43-61).

Sheerin, UM; Charlesworth, G; Bras, J; Guerreiro, R; Bhatia, K; Foltynie, T; Limousin, P; (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 open access


Nalls, MA; Plagnol, V; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; Simon-Sanchez, J; (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; Saad, M; (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 open access


Charlesworth, G; Soryal, I; Smith, S; Sisodiya, SM; (2009) Acute, localised paroxysmal pain as the initial manifestation of focal seizures: A case report and a brief review of the literature. PAIN , 141 (3) 300 - 305. 10.1016/j.pain.2008.11.005.


Docherty, RJ; Charlesworth, G; Farrag, K; Bhattacharjee, A; Costa, S; (2005) The use of the rat isolated vagus nerve for functional measurements of the effect of drugs in vitro. J Pharmacol Toxicol Methods , 51 (3) pp. 235-242. 10.1016/j.vascn.2004.08.011.

This list was generated on Sun Jul 3 19:34:46 2016 BST.

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