Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.
Neurology
; 58(6): 962-5, 2002 Mar 26.
Article
em En
| MEDLINE
| ID: mdl-11914417
ABSTRACT
Triple A (3A) syndrome, a rare autosomal recessive disorder, is characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, achalasia of the cardia, alacrima, and variable autonomic and neurologic dysfunction. The gene responsible, AAAS, recently has been identified. We describe the neurologic phenotype of the first adult case of 3A syndrome presenting bulbospinal amyotrophy as the prominent sign in association with a homozygous nonsense mutation identified in the AAAS gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes do Olho Seco
/
Proteínas
/
Acalasia Esofágica
/
Doenças das Glândulas Suprarrenais
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article