Julia Schicks and Matthis Synofzik contributed equally to this work.
POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe†
Article first published online: 27 AUG 2010
Copyright © 2010 Movement Disorder Society
Volume 25, Issue 15, pages 2678–2682, 15 November 2010
How to Cite
Schicks, J., Synofzik, M., Schulte, C. and Schöls, L. (2010), POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. Mov. Disord., 25: 2678–2682. doi: 10.1002/mds.23286
Potential conflict of interest: Nothing to report.
- Issue published online: 10 NOV 2010
- Article first published online: 27 AUG 2010
- Manuscript Accepted: 10 MAY 2010
- Manuscript Revised: 14 MAR 2010
- Manuscript Received: 4 JAN 2010
Nuclear genes, in particular mitochondrial polymerase gamma (POLG) and PEO1, have been increasingly recognized to cause mitochondrial diseases. Both genes assume a complementary role as part of the mitochondrial DNA (mtDNA) replication fork and, accordingly, seem to present with largely overlapping phenotypical spectra. We assessed the frequency and phenotypic spectrum of PEO1 compared to POLG mutations in a cohort of 80 patients with cerebellar ataxia for which common repeat expansion diseases had been excluded. Patients were selected to present additional features previously described for PEO1 mutations, namely early age of onset, progressive external ophthalmoplegia (PEO), or epilepsy. Whereas PEO1 mutations were not found in our cohort, POLG frequently caused ataxia with PEO (47%), psychiatric comorbidities (20%) and, more rarely, with epilepsy (14%). Thus, PEO1 is rare in Central Europe even in those patients displaying characteristic phenotypic features. In contrast, POLG is rather common in Central European ataxia patients. It should be particularly considered in ataxia patients with PEO, psychiatric comorbidities, and/or sensory neuropathy, even if characteristic mitochondrial extra-CNS features are absent. © 2010 Movement Disorder Society.