Document Detail

Oculopharyngeal muscular dystrophy.
MedLine Citation:
PMID:  10711989     Owner:  NLM     Status:  MEDLINE    
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 riplet-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.
B Brais; G A Rouleau; J P Bouchard; M Fardeau; F M Tomé
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Seminars in neurology     Volume:  19     ISSN:  0271-8235     ISO Abbreviation:  Semin Neurol     Publication Date:  1999  
Date Detail:
Created Date:  2000-03-31     Completed Date:  2000-03-31     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8111343     Medline TA:  Semin Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  59-66     Citation Subset:  IM    
Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Campus Nôtre-Dame, Quebec, Canada.
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MeSH Terms
Blepharoptosis / genetics
Chromosomes, Human, Pair 14 / genetics*
Deglutition Disorders / genetics
Heterozygote Detection
Muscle Weakness / genetics
Muscle, Skeletal / pathology
Muscular Dystrophies / diagnosis,  genetics*,  pathology
Peptides / genetics
Poly(A)-Binding Proteins
RNA-Binding Proteins / genetics
Receptors, Cytoplasmic and Nuclear / genetics
Trinucleotide Repeats*
Reg. No./Substance:
0/Peptides; 0/Poly(A)-Binding Proteins; 0/RNA-Binding Proteins; 0/Receptors, Cytoplasmic and Nuclear; 25191-17-7/polyalanine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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