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

[triple a syndrome]

Triple A (3 A ) 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 3 A syndrome presenting bulbospinal amyotrophy as the prominent sign in association with a homozygous nonsense mutation identified in the AAAS gene .