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The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases.
- 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.
- Subjects :
- Aged
DNA Mutational Analysis methods
Female
Genetic Predisposition to Disease epidemiology
Humans
Incidence
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Male
Middle Aged
Neurodegenerative Diseases enzymology
Neurodegenerative Diseases epidemiology
Neurodegenerative Diseases genetics
Parkinson Disease genetics
Risk Factors
United States epidemiology
Genetic Testing methods
Parkinson Disease enzymology
Parkinson Disease epidemiology
Polymorphism, Genetic
Protein Serine-Threonine Kinases genetics
Risk Assessment methods
Subjects
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