Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.
Ann Neurol
; 61(6): 607-10, 2007 Jun.
Article
em En
| MEDLINE
| ID: mdl-17474109
Spinocerebellar ataxia type 17 (SCA17) is caused by expansion of a CAG/CAA repeat in the TBP gene. Most pathogenic alleles are interrupted and are stably transmitted from parent to offspring without anticipation. We identified three SCA17 families with expansion of uninterrupted alleles, thus greatly increasing the number of known intergenerational transmissions of such alleles. We found that uninterrupted SCA17 alleles are unstable, associated with anticipation, and show a paternal expansion bias that increases with age. Even small increments in repeat length resulted in inordinate increases in anticipation. Anticipation was also associated with childhood presentation. Sequencing of all SCA17 alleles is required for effective genetic counseling.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Expansão das Repetições de Trinucleotídeos
/
Antecipação Genética
/
Ataxias Espinocerebelares
/
Proteína de Ligação a TATA-Box
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Mexico
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
México
País de publicação:
Estados Unidos