| Literature DB >> 16102903 |
Dena Hernandez1, Coro Paisan Ruiz, Anthony Crawley, Roneil Malkani, John Werner, Katrina Gwinn-Hardy, Dennis Dickson, Fabienne Wavrant Devrieze, John Hardy, Andrew Singleton.
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.Entities:
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Year: 2005 PMID: 16102903 DOI: 10.1016/j.neulet.2005.07.044
Source DB: PubMed Journal: Neurosci Lett ISSN: 0304-3940 Impact factor: 3.046