Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Mov Disord
; 27(3): 442-6, 2012 Mar.
Article
em En
| MEDLINE
| ID: mdl-22287014
ABSTRACT
BACKGROUND:
Sporadic-onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia.METHODS:
Patients with adult-onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes.RESULTS:
We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant.CONCLUSIONS:
The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Precursores de Proteínas
/
Encefalinas
/
Ataxia Cerebelar
/
Predisposição Genética para Doença
/
Lamina Tipo B
/
Proteínas de Choque Térmico
/
Mutação
Tipo de estudo:
Etiology_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Mov Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Estados Unidos