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Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

From the Department of Neurology (Dr. Chinnery and G. Hudson), The Medical School, University of Newcastle upon Tyne, UK; Department of Neurology (Drs. Deschauer and Zierz), Martin-Luther-Universitaet Halle-Wittenberg, Halle/Saale; and Department of Neurology (Dr. Busse), Berufsgenossenschaftliche Kliniken Bergmannstrost Halle, Teaching Hospital of the University Halle-Wittenberg, Germany.

Address correspondence and reprint requests to Dr. P.F. Chinnery, Department of Neurology, The Medical School, Framlington Place, University of Newcastle upon Tyne, NE2 4HH, UK; e-mail: P.F.Chinnery{at}ncl.ac.uk

The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle). The mutation was not identified in parents’ blood, hair follicles, buccal mucosa, or urinary epithelium, indicating germ line mosaicism. One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the January 25 issue to find the title link for this article.

*These authors contributed equally to this work.

M.D. was supported by a fellowship from the University of Halle-Wittenberg (Roux-Programm). P.F.C. is a Wellcome Trust Senior Fellow in Clinical Science (071095/Z/03/Z & 065473[Z][0]1[Z]).

Received April 23, 2004. Accepted in final form September 3, 2004.

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