Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.
Neurology
; 58(6): 962-5, 2002 Mar 26.
Article
de 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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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Syndromes de l'oeil sec
/
Protéines
/
Achalasie oesophagienne
/
Maladies des surrénales
/
Mutation
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
Limites:
Adult
/
Female
/
Humans
/
Male
Langue:
En
Journal:
Neurology
Année:
2002
Type de document:
Article
Pays d'affiliation:
France