151. Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.
- Author
-
Paradas C, Camaño P, Otaegui D, Oz O, Emmanuele V, DiMauro S, and Hirano M
- Subjects
- Family Health, Female, Humans, Longitudinal Studies, Middle Aged, Arginine genetics, Blepharoptosis genetics, DNA Helicases genetics, Mitochondrial Proteins genetics, Mutation genetics, Ocular Motility Disorders genetics, Proline genetics
- Abstract
Importance: Autosomal dominant progressive external ophthalmoplegia due to PEO1 mutations is considered relatively benign, but no data about long-term progression of this disease have been reported. The aim of this study was to provide a 16-year clinical follow-up of autosomal dominant progressive external ophthalmoplegia due to the p.R357P gene mutation in PEO1., Observations: Twenty-two members of an Irish-American family were examined in 1996, when PEO1 sequencing revealed a c.1071G>C/p.R357P mutation in 9 of them. We reexamined the family in 2012 using a standardized clinical protocol. Autosomal dominant progressive external ophthalmoplegia due to the p.R357P PEO1 mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly. Ophthalmoparesis, if present, is mild and evident only by neurological examination., Conclusions and Relevance: Our results are important for prognosis and genetic counseling.
- Published
- 2013
- Full Text
- View/download PDF