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Neurology 2002;58:962-965
© 2002 American Academy of Neurology
Brief Communications

Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation

C. Goizet, MD, B. Catargi, MD, F. Tison, MD PhD, A. Tullio-Pelet, PhD, S. Hadj-Rabia, MD, F. Pujol, MD, A. Lagueny, MD, S. Lyonnet, MD PhD and D. Lacombe, MD

From the Service de Génétique Médicale (Drs. Goizet and Lacombe), Hôpital Pellegrin-Enfants, Bordeaux; Service d’Endocrinologie (Dr. Catargi), Service de Neurologie (Drs. Tison, Pujol, and Lagueny), Hôpital Haut-Lévêque, Pessac; Unité de Recherche sur les Handicaps Génétiques de l’Enfant INSERM U-393 (Drs. Tullio-Pelet, Hadj-Rabia, and Lyonnet), Paris, France.

Address correspondence and reprint requests to Dr. Cyril Goizet, Service de Génétique Médicale, Hôpital Pellegrin-Enfants, F-33076 Bordeaux Cedex, France; e-mail: cyril.goizet{at}chu-bordeaux.fr

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.




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Correspondence:

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Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation
Mamede deCarvalho, et al.
Neurology Online, 17 Jul 2002 [Full text]
Reply to Letter to the Editor
Cyril Goizet, et al.
Neurology Online, 17 Jul 2002 [Full text]

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