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Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
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Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
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Journal Article
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
2005
Overview
Mutations in the leucine-rich repeat kinase 2 (
LRRK2) gene cause some forms of autosomal dominant Parkinson's disease. We measured the frequency of a novel mutation (Gly2019Ser) in familial Parkinson's disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5%) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson's disease. Thus, our results suggest that a single
LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease.
Published online January 18, 2005 http://image.thelancet.com/extras/04let12014web.pdf
Publisher
Elsevier Ltd,Elsevier Limited
Subject
