Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation

Triple A (3A) syndrome, a rare autosomal recessive disorder, is characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, of the cardia, alacrima, and variable autonomic and neurologic The gene responsible, AAAS, recently has been identified. We the neurologic phenotype of the first adult case of 3A syndrome bulbospinal amyotrophy as the prominent sign in association with homozygous nonsense mutation identified in the AAAS gene.