Hostname: page-component-78c5997874-dh8gc Total loading time: 0 Render date: 2024-11-09T06:43:55.195Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Published online by Cambridge University Press:  20 October 2014

L. Jouan ,
D. Rocheford ,
A. Szuto ,
E. Carney ,
K. David ,
P.A. Dion  and
G.A. Rouleau
L. Jouan
Affiliation:
Montreal Neurological Institute and Hospital, Department of Medicine, McGill University Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada
D. Rocheford
Affiliation:
Montreal Neurological Institute and Hospital, Department of Medicine, McGill University Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada
A. Szuto
Affiliation:
Montreal Neurological Institute and Hospital, Department of Medicine, McGill University Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada
E. Carney
Affiliation:
New York Methodist Hospital, Department of Medicine, Division of Genetics, Brooklyn Metropolitan Hospital Center, Department of Pediatrics, Genetic Services, New York, New York, USA
K. David
Affiliation:
New York Methodist Hospital, Department of Medicine, Division of Genetics, Brooklyn Metropolitan Hospital Center, Department of Pediatrics, Genetic Services, New York, New York, USA
P.A. Dion
Affiliation:
Montreal Neurological Institute and Hospital, Department of Medicine, McGill University Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada Department of Pathology and Cell Biology, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada
G.A. Rouleau*
Affiliation:
Montreal Neurological Institute and Hospital, Department of Medicine, McGill University
*
Montreal Neurological Institute and Hospital, 3801 University St., Room 636, Montreal, Quebec, H3A 2B4, Canada. Email: [email protected].
Rights & Permissions [Opens in a new window]

Abstract

An abstract is not available for this content so a preview has been provided. As you have access to this content, a full PDF is available via the ‘Save PDF’ action button.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Brief Communications
Information
Canadian Journal of Neurological Sciences , Volume 41 , Issue 4 , July 2014 , pp. 508 - 511
Copyright
Copyright © The Canadian Journal of Neurological 2014

References

1.Abu-Baker, A, Rouleau, GA.Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochim Biophys Acta. 2007;1772(2):173–85.CrossRefGoogle ScholarPubMed
2.Robinson, DO, Hammans, SR, Read, SP, Sillibourne, J.Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism. Hum Genet. 2005;116(4):267–71.CrossRefGoogle ScholarPubMed
3.Brais, B, Bouchard, JP, Xie, YG, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998;18(2):164–7.CrossRefGoogle ScholarPubMed
4.Hebbar, S, Webberley, MJ, Lunt, P, Robinson, DO.Siblings with recessive oculopharyngeal muscular dystrophy. Neuromuscul Disord. 2007;17(3):254–7.CrossRefGoogle ScholarPubMed
5.Hill, ME, Creed, GA, McMullan, TF, et al. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain. 2001;124(Pt 3):522–6.CrossRefGoogle Scholar
6.Semmler, A, Kress, W, Vielhaber, S, Schroder, R, Kornblum, C.Variability of the recessive oculopharyngeal muscular dystrophy phenotype. Muscle Nerve. 2007;35(5):681–4.CrossRefGoogle ScholarPubMed
7.Tondo, M, Gamez, J, Gutierrez-Rivas, E, Medel-Jimenez, R, Martorell, L.Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. J Neurol. 2012;259(8):1546–52.CrossRefGoogle ScholarPubMed
8.Becher, MW, Morrison, L, Davis, LE, et al. Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. JAMA. 2001;286(19):2437–40.CrossRefGoogle ScholarPubMed
9.Blumen, SC, Brais, B, Korczyn, AD, et al. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann Neurol. 1999;46(1):115–18.3.0.CO;2-O>CrossRefGoogle ScholarPubMed
10.Blumen, SC, Sadeh, M, Korczyn, AD, et al. Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews. Neurology. 1996;46(5):1324–8.CrossRefGoogle ScholarPubMed
11.Blumen, SC, Bouchard, JP, Brais, B, et al. Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology. 2009;73(8):596–601.CrossRefGoogle ScholarPubMed
12.Dubbioso, R, Moretta, P, Manganelli, F, et al. Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy. J Neurol. 2012;259(5):833–7.CrossRefGoogle ScholarPubMed