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Semin Neurol 1999; 19(1): 59-66
DOI: 10.1055/s-2008-1040826
© 1999 by Thieme Medical Publishers, Inc.

Oculopharyngeal Muscular Dystrophy

Bernard Brais1 , Guy A. Rouleau2 , Jean-Pierre Bouchard3 , M. Fardeau4 , Fernando M.S. Tomé4
  • 1Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Campus Nôtre-Dame, Montreal, Quebec, Canada
  • 2Centre for Research in Neurosciences, McGill University, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec, Canada
  • 3Departement des Sciences Neurologiques, Hôpital de l'Enfant-Jesus, Quebec, Canada
  • 4INSERM U.153, Institut de Myologie, Hôpital de la Salpétrière, Paris, France
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Publikationsdatum:
19. März 2008 (online)

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ABSTRACT

Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with worldwide distribution. It usually presents in the fifth or sixth decades with progressive dysphagia, eyelid ptosis, and proximal limb weakness. Unique intranuclear filament inclusions in skeletal muscle fibers are its morphological hallmark. Surgical correction of the ptosis and cricopharyngeal myotomy are the only therapies available. Autosomal dominant OPMD is caused by short (GCG)8_13 triplet-repeat expansions in the polyadenylation binding protein 2 (PABP2) gene, which is localized in chromosome 14q11. Autosomal recessive OPMD is caused by a double dose of a (GCG)7 PABP2 allele. The GCG expansions cause lengthening of a predicted polyalanine tract in the protein. The expanded polyalanine domains may cause polyalanine nuclear toxicity by accumulating as nondegradable nuclear filaments.

Keywords

Oculopharyngeal - muscular dystrophy - polyalanine - PABP2 gene