Dentatorubral pallidoluysian atrophy in a Turkish family.
Turk J Pediatr
; 51(6): 610-2, 2009.
Article
em En
| MEDLINE
| ID: mdl-20196398
ABSTRACT
Dentatorubral pallidoluysian atrophy is a neurodegenerative disease that generally presents in adulthood. Although rare, it can be observed in childhood due to extreme expansion of the triplet repeat size during spermatogenesis. The diagnosis in childhood is very difficult in the absence of family history. Here we describe a 12-year-old girl with dentatorubral pallidoluysian atrophy who presented with progressive myoclonic epilepsy and ataxia. Family history exhibited similarly affected cases on the paternal side. Molecular testing for dentatorubral pallidoluysian atrophy revealed abnormal "cytosine-adenine-guanosine" expansion in the atrophin-1 gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA
/
Família
/
Expressão Gênica
/
Epilepsias Mioclônicas Progressivas
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Turquia