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Neurogenic involvement in a case of oculopharyngeal muscular dystrophy
Yassine Boukriche1, Thierry Maisonobe, Catherine Masson
1Department of Neurology, Beaujon Hospital, 100 Boulevard du Général Leclerc, 92110 Clichy, France. yboukriche@invivo.edu
Abstract:
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.
Insights
Oculopharyngeal muscular dystrophy (OPMD) can present with severe axonal neuropathy, suggesting a potential neurogenic component. Mutation length in the PABP2 gene may influence OPMD phenotype severity.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disorder typically characterized by muscle weakness.
- The genetic basis of OPMD involves mutations in the poly(A)-binding protein 2 (PABP2) gene.
Observation:
- A 65-year-old male patient with a 15-year history of OPMD presented with a severe chronic axonal neuropathy.
- The patient harbored a (GCG)11 repeat expansion mutation in the PABP2 gene.
Findings:
- This case highlights a rare co-occurrence of OPMD and significant neuropathic features.
- The findings suggest a potential neurogenic component contributing to the OPMD phenotype in this patient.
Implications:
- This case prompts further investigation into the neurogenic aspects of OPMD.
- The length of the PABP2 gene mutation may play a role in determining disease severity and phenotype, including neuropathic involvement.