Oculopharyngeal muscular dystrophy
- PMID: 10711989
- DOI: 10.1055/s-2008-1040826
Oculopharyngeal muscular dystrophy
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 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.
Similar articles
-
[From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy].Ned Tijdschr Geneeskd. 2006 May 20;150(20):1124-6. Ned Tijdschr Geneeskd. 2006. PMID: 16756225 Review. Dutch.
-
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.Nat Genet. 1998 Feb;18(2):164-7. doi: 10.1038/ng0298-164. Nat Genet. 1998. PMID: 9462747
-
PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy.Ann Neurol. 2000 Nov;48(5):798-802. Ann Neurol. 2000. PMID: 11079546
-
[Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene].Neurologia. 2004 Jun;19(5):239-47. Neurologia. 2004. PMID: 15150706 Spanish.
-
Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease.Cytogenet Genome Res. 2003;100(1-4):252-60. doi: 10.1159/000072861. Cytogenet Genome Res. 2003. PMID: 14526187 Review.
Cited by
-
Prevalence of muscular dystrophy in patients with muscular disorders in Tehran, Iran.Eur J Transl Myol. 2018 May 18;28(2):7380. doi: 10.4081/ejtm.2018.7385. eCollection 2018 Apr 24. Eur J Transl Myol. 2018. PMID: 29991987 Free PMC article.
-
Approach to a patient with blepharoptosis.Neurol Sci. 2016 Oct;37(10):1589-96. doi: 10.1007/s10072-016-2633-7. Epub 2016 Jun 21. Neurol Sci. 2016. PMID: 27329276 Review.
-
Poly (A) binding protein 2 is critical for stem cell differentiation during regeneration in the planarian Schmidtea mediterranea.Front Cell Dev Biol. 2024 Sep 23;12:1433142. doi: 10.3389/fcell.2024.1433142. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 39376632 Free PMC article.
-
Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy.J Neurol. 2012 May;259(5):833-7. doi: 10.1007/s00415-011-6255-y. Epub 2011 Sep 29. J Neurol. 2012. PMID: 21956377
-
Ptosis aggravates dysphagia in oculopharyngeal muscular dystrophy.J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):266-8. doi: 10.1136/jnnp.2005.062521. J Neurol Neurosurg Psychiatry. 2006. PMID: 16421137 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical