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

@article{Goizet2002ProgressiveBA,
  title={Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.},
  author={Cyril Goizet and Bogdan Catargi and Francois Tison and Anna Tullio-Pelet and Smail Hadj-Rabia and Fernando Pujol and Alain Lagueny and Stanislas Lyonnet and Didier Lacombe},
  journal={Neurology},
  year={2002},
  volume={58 6},
  pages={962-5}
}
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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