Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia.
Neurosci Lett
; 402(1-2): 92-6, 2006 Jul 10.
Article
em En
| MEDLINE
| ID: mdl-16632201
ABSTRACT
Mutations in leucine-rich repeat kinase 2 gene (LRRK2) have been associated with idiopathic Parkinson's disease (PD), as well as pleomorphic neurodegenerative pathology, including Alzheimer's disease. One specific LRRK2 mutation, G2019S, was reported in 18% of people with PD of Ashkenazi descent, supporting a founder effect in this population. To determine if this mutation is also associated with dementia in the Ashkenazim, we screened 192 elderly Ashkenazi Jewish (AJ) individuals in a longitudinal aging and cognition study, of whom 49 (25.5%) had dementia. Two non-demented individuals harbored the mutation (2/143, 1.4%), but no individuals with dementia. Neither person with the mutation had Parkinson's disease. Therefore, the LRRK2 mutation has a relatively high frequency in the AJ population, is not fully penetrant for parkinsonism in the elderly, and does not appear to be commonly associated with late-onset dementia.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Serina
/
Envelhecimento
/
Proteínas Serina-Treonina Quinases
/
Demência
/
Glicina
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Aged80
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neurosci Lett
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Estados Unidos