title: Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.
abstract: We report on the case of a 25-year-old woman with triple A syndrome and gene mutation, who, during the long follow-up period of 23 years, developed myoclonus of the face and the upper limbs (with normal brain magnetic resonance spectroscopy) and widespread digestive dysmotility, involving small bowels and gall bladder. These features, not previously described, illustrate an extension of the cerebral and digestive neurological involvement in this syndrome.
authors.affiliation: Department of Neurology, Hôpital Saint-Antoine, AP-HP, Paris, France. arschlum@yahoo.fr
authors.forename: Anne
authors.initials: A
authors.lastname: Roubergue
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Apartis
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
authors.forename: Cyril
authors.initials: C
authors.lastname: Mignot
authors.forename: Anna
authors.initials: A
authors.lastname: Tullio-Pelet
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Thierry Billette
authors.initials: TB
authors.lastname: de Villemeur
mesh_terms: D000307:Adrenal Gland Diseases / Q000150:complications* / Q000235:genetics*; D000328:Adult; D004576:Electromyography; D004931:Esophageal Achalasia / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005767:Gastrointestinal Diseases / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D005769:Gastrointestinal Motility / Q000502:physiology*; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000150:complications* / Q000235:genetics*; D009207:Myoclonus / Q000150:complications*; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D017354:Point Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins