The dardarin G2019S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases

NEUROSCIENCE LETTERS

卷:389

Article

Hernandez, D ; Ruiz, CP ; Crawley, A ; Malkani, R ; Werner, J ; Gwinn-Hardy, K ; Dickson, D ; DeVrieze, FW ; Hardy, J ; Singleton, A

关键词: Parkinson's disease;    parkinsonism;    dementia;    LRRK2;    dardarin genetics;   

DOI  :  10.1016/j.neulet.2005.07.044

来源: Elsevier

【 摘 要 】

Mutations in the leucine-rich kinase 2 gene (LRRK2) encoding dardarin, on chromosome 12, are a common cause of familial and sporadic Parkinson's disease. The most common mutation, a heterozygous 6055G> A transition (G2019S) accounts for approximately 3-10% of familial Parkinson's disease and 1-8% sporadic Parkinson's disease in several European-derived populations. Some families with disease caused by LRRK2 mutations have been reported to include patients with highly variable clinical and pathological features. We screened for the most common LRRK2 mutation in a series of patients with Parkinson's Disease, Alzheimer's disease, Progressive Supranuclear Palsy, Multiple System Atrophy and frontotemporal dementia, as well as in neurologically normal controls. The mutation was found only in Parkinson's disease patients or their relatives and not in those with other neurodegenerative disease. (C) 2005 Elsevier Ireland Ltd. All rights reserved.

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