Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes.

@article{Blumen2009CognitiveIA,
  title={Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes.},
  author={Sergiu C. Blumen and Jean-Pierre Bouchard and Bernard Brais and Ralph L Carasso and Diana Paleacu and Vivian Drory and Stheneur Chantal and Nava Blumen and Irwin M. Braverman},
  journal={Neurology},
  year={2009},
  volume={73 8},
  pages={596-601}
}
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… CONTINUE READING