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Case Report/Case Series |

Longitudinal Clinical Follow-up of a Large Family With the R357P Twinkle Mutation

Carmen Paradas, MD1,2,3; Pilar Camaño, PhD2,3,4,5; David Otaegui, PhD3,5; Oguzhan Oz, MD3; Valentina Emmanuele, MD3; Salvatore DiMauro, MD3; Michio Hirano, MD3
[+] Author Affiliations
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, Spain
2Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Ministry of Economy and Competitiveness, Madrid, Spain
3Department of Neurology, Columbia University Medical Center, New York, New York
4Ilundain Haritz Berri Fundazioa, Valle de Aranguren, Spain
5Department of Neurosciences, BioDonostia Health Research Institute, Donostia Hospital, San Sebastián, Spain
JAMA Neurol. 2013;70(11):1425-1428. doi:10.1001/jamaneurol.2013.3185.
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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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Figure 1.
Pedigree

Individual symbols have been partitioned and shaded with different fills. We differentiate symptoms (the patient is aware of the clinical manifestation) from signs (the clinical manifestation is revealed by physical examination). Arrow indicates proband.

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Figure 2.
Ptosis and External Ocular Movements After 16 Years of Follow-up

The photographs in the basal column were taken in primary eye position. In the next columns, we asked the patients to look up, down, left, and right to evaluate any restriction in eye movements.

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