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, 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.
Goizet
C
C
Service de Génétique Médicale (Drs. Goizet and Lacombe), Hôpital Pellegrin-Enfants, Bordeaux, France. cyril.goizet@chu-bordeaux.fr
Catargi
B
B
Tison
F
F
Tullio-Pelet
A
A
Hadj-Rabia
S
S
Pujol
F
F
Lagueny
A
A
Lyonnet
S
S
Lacombe
D
D
D000307:Adrenal Gland Diseases / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D015352:Dry Eye Syndromes / Q000175:diagnosis / Q000235:genetics*; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins