Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.
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.
Roubergue
Anne
A
Department of Neurology, Hôpital Saint-Antoine, AP-HP, Paris, France. arschlum@yahoo.fr
Apartis
Emmanuelle
E
Vidailhet
Marie
M
Mignot
Cyril
C
Tullio-Pelet
Anna
A
Lyonnet
Stanislas
S
de Villemeur
Thierry Billette
TB
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
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins