Format

Send to:

Choose Destination
See comment in PubMed Commons below
Neurology. 2002 Mar 26;58(6):962-5.

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.

Author information

  • 1Service de Génétique Médicale (Drs. Goizet and Lacombe), Hôpital Pellegrin-Enfants, Bordeaux, France. cyril.goizet@chu-bordeaux.fr

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.

PMID:
11914417
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk