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Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation
Author(s) -
Roubergue Anne,
Apartis Emmanuelle,
Vidailhet Marie,
Mignot Cyril,
TullioPelet Anna,
Lyonnet Stanislas,
De Villemeur Thierry Billette
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10660
Subject(s) - myoclonus , medicine , mutation , magnetic resonance imaging , gastroenterology , pathology , gene , biology , genetics , psychiatry , radiology
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. © 2003 Movement Disorder Society