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The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases.

Authors :
Hernandez D
Paisan Ruiz C
Crawley A
Malkani R
Werner J
Gwinn-Hardy K
Dickson D
Wavrant Devrieze F
Hardy J
Singleton A
Source :
Neuroscience letters [Neurosci Lett] 2005 Dec 09; Vol. 389 (3), pp. 137-9.
Publication Year :
2005

Abstract

Mutations in the leucine-rich kinase 2 gene (LRRK 2) encoding dardarin, on chromosome 12, are a common cause of familial and sporadic Parkinson's disease. The most common mutation, a heterozygous 6055 G>A transition (G 2019 S) 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 LRRK 2 mutations have been reported to include patients with highly variable clinical and pathological features. We screened for the most common LRRK 2 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.

Details

Language :
English
ISSN :
0304-3940
Volume :
389
Issue :
3
Database :
MEDLINE
Journal :
Neuroscience letters
Publication Type :
Academic Journal
Accession number :
16102903
Full Text :
https://doi.org/10.1016/j.neulet.2005.07.044