Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans

Bêcher, Mark W.; Morrison, Leslie; Davis, Larry E.; Maki, Wusi C.; King, Molly K.; Bicknell, Joseph M.; Reinert, Brian L.; Bartolo, Claire; Bear, David G.

doi:10.1001/jama.286.19.2437

Cited by 83 publications

(58 citation statements)

References 39 publications

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“…Brais et al, reported mean ages of 48.1 and 50.7 years for ptosis and dysphagia respectively in a cohort of French-Canadians with a (GCN) 13 mutation, which is consistent with a study in a cohort of Hispanic New Mexican cases with dominant OPMD and mean age of onset of 52 and 54 for ptosis and dysphagia 3,8 . However, the severity of the dominant OPMD phenotype is variable and severe cases with symptoms of ptosis and dysphagia before 45 years of age and incapacitating proximal leg weakness before 60 years of age represent 5 to 10% of all cases.…”

Section: Figure 1: (A) Pedigree Of the Oculopharyngeal Muscular Dystrsupporting

confidence: 71%

An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

Jouan

Rocheford

Szuto

et al. 2014

Can. J. Neurol. Sci.

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Section: Figure 1: (A) Pedigree Of the Oculopharyngeal Muscular Dystrsupporting

confidence: 71%

An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

Jouan

Rocheford

Szuto

et al. 2014

Can. J. Neurol. Sci.

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“…Two families [2,3] showed a perfect repeat, which contained (GCG) 10 . The patients of the other two families [1,4] did not show a perfect one, their repeat contained (GCG) 6 (GCA) 2 (GCG) 2 [17].…”

Section: S Muscle Biopsiesmentioning

confidence: 99%

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

Sluijs

Hoefsloot

Padberg

et al. 2003

Journal of Neurology

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This first description of the oculopharyngeal muscular dystrophy (OPMD) phenotype in Dutch patients shows that limb girdle weakness can occur early in the course of disease and can give the first and major complaint in OPMD patients. The aim of this study was to examine clinically, histologically and genetically all Dutch OPMD patients known at the Neuromuscular Centre Nijmegen, to measure the limb girdle weakness (MRC scale) and to quantify the consequences of the limb girdle weakness on daily activities (Rankin scale). Remarkable in this population was the early onset and the severity of the limb girdle weakness. We found a higher percentage of patients with limb girdle weakness than reported before in non-Dutch OPMD populations. This limb girdle weakness caused limitations in daily activities more than the other symptoms of OPMD. It was difficult to compare the severity of the limb girdle weakness of Dutch patients with other patients because of the lack of data related to quantification of limb girdle weakness in non-Dutch OPMD patients. Because of the influence of the limb girdle weakness on the daily activities of the patients, we recommend that more attention is paid to the proximal limb muscles in OPMD patients early in the course of the disease.

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“…André Barbeau found the largest cluster of OPMD in the Canadian Province of Quebec, with an estimated prevalence of 1:1,000 (Barbeau, 1966(Barbeau, , 1969Brais et al, 1995). Other large clusters have been observed in Bukhara Jews (1:600) (Blumen et al, 1997), Uruguayans (Medici et al, 1997), and Spanish Americans living in New Mexico (Becher et al, 2001) and California (Grewal et al, 1999). Cases of OPMD have now been reported in more than 30 countries.…”

mentioning

confidence: 99%

“…The disease has a slowly progressive course. Life expectancy is not diminished by the condition (Becher et al, 2001). Until recently, death occurred at an advanced age as a result of starvation or aspiration pneumonia.…”

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confidence: 99%

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease

Brais¹

2003

Cytogenet Genome Res

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Oculopharyngeal muscular dystrophy (OPMD) is a muscle disease of late onset associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs). OPMD is usually transmitted as an autosomal dominant trait (OMIM 164300). A rarer allelic autosomal recessive form has also been observed (OMIM 257950). Both forms are caused by short (GCG)_8–13 expansions in the polyadenylate-binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11.1. The mutations cause the lengthening of an N-terminal polyalanine domain. Both slippage and unequal recombination have been proposed as the mutation mechanisms. The size of the mutation has not yet been conclusively shown to inversely correlate with the severity of the phenotype. Mutated PABPN1 proteins have been shown to be constituents of the INIs. The INIs also contain ubiquitin, proteasome subunits, HSP 40, HSP 70, SKIP, and abundant poly(A)-mRNA. The exact mechanism responsible for polyalanine toxicity in OPMD is unknown. Various intranuclear inclusion dependent and independent mechanisms have been proposed based on the major known function of PABPN1 in polyadenylation of mRNA and its shuttling from the nucleus to the cytoplasm. OPMD is one of the few triplet-repeat diseases for which the function of the mutated gene is known. Because of the increasing number of diseases caused by polyalanine expansions and the pathological overlap with CAG/polyglutamine diseases, what pathological insight is gained by the study of OPMD could lead to a better understanding of a much larger group of developmental and degenerative diseases.

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Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans

Cited by 83 publications

References 39 publications

An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease

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