Paralysis Research Today is a free monthly online journal that collates and summarizes the latest research about Paralysis, including details on treatment, diagnosis, facial paralysis, sleep paralysis.

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

Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF

Department of Neurology, The Medical School, University of Newcastle upon Tyne, 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.

Published 25 January 2005 in Neurology, 64(2): 371-3.
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