Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2.
Arch Neurol
; 64(7): 1042-4, 2007 Jul.
Article
en En
| MEDLINE
| ID: mdl-17620498
ABSTRACT
BACKGROUND:
A common mitochondrial complex I gene polymorphism (10398G) is reported to be inversely associated with the risk of Parkinson disease. We hypothesized that this variant might have a protective effect on the central nervous system and therefore might delay the onset of symptoms in spinocerebellar ataxia type 2 (SCA2).OBJECTIVE:
To assess the association of the 10398G polymorphism with age at onset in Cuban patients with SCA2.DESIGN:
Genetic association study.SETTING:
Holguin, Cuba. PATIENTS Forty-six Cuban patients with SCA2. MAIN OUTCOMEMEASURES:
Presence or absence of the 10398G polymorphism was determined in 46 Cuban patients with SCA2 and early or late onset of symptoms, defined as at least 2 SDs lower than or higher than the mean age at onset for patients with a similarly sized triplet repeat expansion.RESULTS:
The polymorphism was present in 11 of 27 Cuban patients with SCA2 and early onset (41%) vs 2 of 19 with late onset (11%) (Fisher exact test; P = .04).CONCLUSION:
Contrary to our prediction of a later onset of SCA2 in patients with the 10398G polymorphism, we find that this variant is associated with an earlier age at onset in Cuban patients with SCA2.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
/
Química Encefálica
/
ADN Mitocondrial
/
Ataxias Espinocerebelosas
/
Complejo I de Transporte de Electrón
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Humans
País/Región como asunto:
Caribe
/
Cuba
Idioma:
En
Revista:
Arch Neurol
Año:
2007
Tipo del documento:
Article
País de afiliación:
Estados Unidos