Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes
Neurology, Volume 73, No. 8, Year 2009
Notification
URL copied to clipboard!
Description
OBJECTIVE: To assess the evolution and life expectancy in patients with oculopharyngeal muscular dystrophy (OPMD) who are homozygotes for two (GCN)13 expansions in the PABPN1 encoding gene. BACKGROUND: OPMD is particularly frequent among French Canadians (FCs) and Uzbek Jews (UJs), who carry a same size, (GCN)13, PABPN1 mutation. The high rate of consanguinity among UJs together with late disease onset and normal fertility results in homozygous cases. METHODS: For 15 to 20 years, we followed 4 FC and 6 UJ homozygotes with OPMD and compared them with their heterozygous parents and siblings. In addition to clinical evaluation, electrodiagnostic tests, psychological tests, and brain imaging studies were performed. RESULTS: In all (GCN)13-(GCN)13 patients, OPMD started before age 35 years, with bilateral ptosis and dysphagia; external ophthalmoparesis and dysphonia followed within a few years, as well as weakness in proximal limb muscles. All patients had recurrent aspirations and lost weight; 4 patients required surgical interventions to alleviate dysphagia, and 5 required feeding gastrostomies. Most patients were followed by psychiatrists due to cognitive decline, recurrent depression, or psychotic episodes. Six patients died at ages 50, 51, 53, 56, 56, and 57 years. The eldest patient is now 51 years old; she is cachectic and requires special diet and psychiatric care for paranoid psychosis and uninhibited behavior. CONCLUSIONS: Oculopharyngeal muscular dystrophy progresses faster in homozygote compared with heterozygote patients. It is not restricted to the muscles, but also involves the CNS with cognitive decline and psychotic manifestations and leads to a reduced life expectancy. © 2009 AAN Enterprises, Inc.
Authors & Co-Authors
Blumen, Sergiu C.
Israel, Hadera
Hillel Yaffe Medical Center
Israel, Haifa
Technion - Israel Institute of Technology
Bouchard, Jean Pierre
Canada, Quebec
Chu de Québec-université Laval
Brais, Bernard
Canada, Montreal
University of Montreal
Drory, Vivian E.
Israel, Tel Aviv-yafo
Tel Aviv University
Braverman, Itzhak
Israel, Hadera
Hillel Yaffe Medical Center
Israel, Haifa
Technion - Israel Institute of Technology
Statistics
Citations: 41
Authors: 5
Affiliations: 7
Identifiers
Doi:
10.1212/WNL.0b013e3181b388a3
ISSN:
00283878
Research Areas
Cancer
Disability
Genetics And Genomics
Health System And Policy
Mental Health
Sexual And Reproductive Health