Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.
Lancet
; 365(9457): 410-2, 2005.
Article
en En
| MEDLINE
| ID: mdl-15680455
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal dominant Parkinson's disease. We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson's disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5%) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson's disease. Thus, our results suggest that a single LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Parkinson
/
Proteínas Serina-Treonina Quinasas
/
Mutación Puntual
Tipo de estudio:
Clinical_trials
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Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Adolescent
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Adult
/
Aged
/
Aged80
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Lancet
Año:
2005
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Reino Unido