A common LRRK2 mutation in idiopathic Parkinson's disease

Gilks, William P, Abou-Sleiman, Patrick M, Gandhi, Sonia, Jain, Shushant, Singleton, Andrew, Lees, Andrew J, Shaw, Karen, Bhatia, Kailash P, Bonifati, Vincenzo, Quinn, Niall P, Lynch, John, Healy, Daniel G, Holton, Janice L, Revesz, Tamas and Wood, Nicholas W (2005) A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet, 365 (9457). pp. 415-416. ISSN 1474-547X

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Abstract

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant Parkinson's disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510 g-->A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson's disease. We assessed 482 patients with the disorder, of whom 263 had pathologically confirmed disease, by direct sequencing for mutations in exon 41 of LRRK2. The mutation was present in eight (1.6%) patients. We have shown that a common single Mendelian mutation is implicated in sporadic Parkinson's disease. We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease.

Item Type: Article
Schools and Departments: School of Life Sciences > Evolution, Behaviour and Environment
Subjects: Q Science
R Medicine
Depositing User: William Gilks
Date Deposited: 04 Nov 2014 13:15
Last Modified: 04 Nov 2014 13:15
URI: http://sro.sussex.ac.uk/id/eprint/40537
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