Neurogenic involvement in a case of oculopharyngeal muscular dystrophy.
We report the case of a 65-year-old man with a 15-year history of oculopharyngeal muscular dystrophy (OPMD) harboring a (GCG)11 mutation of the poly(A)-binding protein 2 (PABP2) gene. He developed, early in the course of the disease, a severe chronic axonal neuropathy. Although the primary myopathic origin of the disease appears to be established, a small number of cases of OPMD with neuropathic features have been described. This case raises the question of a possible neurogenic component to this disease and the role of the length of the mutation in phenotype severity.
Boukriche
Yassine
Y
Department of Neurology, Beaujon Hospital, 100 Boulevard du Général Leclerc, 92110 Clichy, France. yboukriche@invivo.edu
Maisonobe
Thierry
T
Masson
Catherine
C
D004576:Electromyography; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation; D010525:Peripheral Nerves / Q000503:physiopathology*; D010543:Peroneal Nerve / Q000473:pathology; D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins / Q000235:genetics
D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins