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Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

ABSTRACT: 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.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.Our results are important for prognosis and genetic counseling.

SUBMITTER: Paradas C

PROVIDER: S-EPMC3973017 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature

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Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

Paradas Carmen C Camaño Pilar P Otaegui David D Oz Oguzhan O Emmanuele Valentina V DiMauro Salvatore S Hirano Michio M

JAMA neurology 20131101 11

<h4>Importance</h4>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.<h4>Observations</h4>Twenty-two members of an Irish-American family were examined in 1996, when PEO1 sequencing revealed a c.107 ...[more]

PMID: 24018892

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