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PMID: 16102903 Published · ppublish English Clinical Trial Controlled Clinical Trial Journal Article

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

Neuroscience letters ·Vol. 389 ·No. 3 ·2005-12-09 ·Pages 137-9

Hernandez D, Paisan Ruiz C, Crawley A, Malkani R, Werner J, Gwinn-Hardy K, Dickson D, Wavrant Devrieze F, Hardy J, Singleton A

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.

MeSH Terms
Aged DNA Mutational Analysis/methods Female Genetic Predisposition to Disease/epidemiology Genetic Testing/methods Humans Incidence Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Male Middle Aged Neurodegenerative Diseases/enzymology,epidemiology,genetics Parkinson Disease/enzymology,epidemiology,genetics Polymorphism, Genetic Protein Serine-Threonine Kinases/genetics Risk Assessment/methods Risk Factors United States/epidemiology
Chemicals
LRRK2 protein, human Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Protein Serine-Threonine Kinases
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Hernandez Dena
Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, Bethesda, MD 20892, USA.
Paisan Ruiz Coro
Crawley Anthony
Malkani Roneil
Werner John
Gwinn-Hardy Katrina
Dickson Dennis
Wavrant Devrieze Fabienne
Hardy John
Singleton Andrew
Article Info
Journal
Neuroscience letters
Abbr.
Neurosci Lett
ISSN
0304-3940
Published
2005-12-09
Pages
137-9
Language
English
Region
Ireland
NLM ID
7600130
Subset
IM
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