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JAMA Neurol. 2013 Nov;70(11):1425-8. doi: 10.1001/jamaneurol.2013.3185.

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

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  • 1Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Universitario Virgen del Rocío/Instituto de Biomedicina de Sevilla/Consejo Superior de Investigaciones Científicas/Universidad de Sevilla, Seville, Spain2Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Ministry of Economy and Competitiveness, Madrid, Spain3Department of Neurology, Columbia University Medical Center, New York, New York.

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.

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