Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
Mov Disord
; 25(14): 2340-5, 2010 Oct 30.
Article
em En
| MEDLINE
| ID: mdl-20721916
ABSTRACT
The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Arginina
/
Proteínas Serina-Treonina Quinases
/
Penetrância
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Polimorfismo de Nucleotídeo Único
/
Glicina
Tipo de estudo:
Incidence_studies
/
Prognostic_studies
Limite:
Aged
/
Aged80
/
Female
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Humans
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Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article