Document Detail


The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases.
MedLine Citation:
PMID:  16102903     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Dena Hernandez; Coro Paisan Ruiz; Anthony Crawley; Roneil Malkani; John Werner; Katrina Gwinn-Hardy; Dennis Dickson; Fabienne Wavrant Devrieze; John Hardy; Andrew Singleton
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Publication Detail:
Type:  Clinical Trial; Controlled Clinical Trial; Journal Article    
Journal Detail:
Title:  Neuroscience letters     Volume:  389     ISSN:  0304-3940     ISO Abbreviation:  Neurosci. Lett.     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-09-14     Completed Date:  2005-11-07     Revised Date:  2012-06-25    
Medline Journal Info:
Nlm Unique ID:  7600130     Medline TA:  Neurosci Lett     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  137-9     Citation Subset:  IM    
Affiliation:
Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, Bethesda, MD 20892, USA.
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MeSH Terms
Descriptor/Qualifier:
Aged
DNA Mutational Analysis / methods
Female
Genetic Predisposition to Disease / epidemiology
Genetic Testing / methods*
Humans
Incidence
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
Chemical
Reg. No./Substance:
EC 2.7.11.1/LRRK2 protein, human; EC 2.7.11.1/Protein-Serine-Threonine Kinases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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