Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.
Neurology. 2002-03-26; 58(6): 962-965
DOI: 10.1212/wnl.58.6.962
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1. Neurology. 2002 Mar 26;58(6):962-5.
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.
Goizet C(1), Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, Lagueny
A, Lyonnet S, Lacombe D.
Author information:
(1)Service de Génétique Médicale (Drs. Goizet and Lacombe), Hôpital
Pellegrin-Enfants, Bordeaux, France.
Comment in
Neurology. 2002 Mar 26;58(6):847-8.
Neurology. 2002 Dec 10;59(11):1823; author reply 1823.
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.
DOI: 10.1212/wnl.58.6.962
PMID: 11914417 [Indexed for MEDLINE]