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A common LRRK2 mutation in idiopathic Parkinson's disease

journal contribution
posted on 2023-06-08, 12:19 authored by William P Gilks, Patrick M Abou-Sleiman, Sonia Gandhi, Shushant Jain, Andrew Singleton, Andrew J Lees, Karen Shaw, Kailash P Bhatia, Vincenzo Bonifati, Niall P Quinn, John Lynch, Daniel G Healy, Janice L Holton, Tamas Revesz, Nicholas W Wood
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.

History

Publication status

  • Published

Journal

Lancet

ISSN

1474-547X

Publisher

Elsevier Ltd

Issue

9457

Volume

365

Page range

415-416

Department affiliated with

  • Evolution, Behaviour and Environment Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2014-11-04

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