Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
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DOI：
10.1016/s0140-6736(05)17828-3
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发表时间：
2005-01-01
期刊：
影响因子：
168.9
通讯作者：
Foroud, T
中科院分区：
文献类型：
--
作者：
Nichols, WC;Pankratz, N;Foroud, T
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.
