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NEUROLOGY 2003;61:1811-1813
© 2003 American Academy of Neurology
Brief Communications

Patient homozygous for a recessive POLG mutation presents with features of MERRF

G. Van Goethem, MD PhD, R. Mercelis, MD PhD, A. Löfgren, MSc, S. Seneca, PhD, C. Ceuterick, PhD, J. J. Martin, MD PhD and C. Van Broeckhoven, PhD DSc

From the Division of Neurology and the Neuromuscular Reference Center (Drs. Van Goethem, Mercelis, and Martin), University Hospital Antwerp, Belgium; Department of Molecular Genetics (Drs. Van Goethem and Van Broeckhoven, A. Löfgren), Flanders Interuniversity Institute for Biotechnology (VIB8); Born-Bunge Foundation (Drs. Van Goethem, Ceuterick, Martin, and Van Broeckhoven, A. Löfgren), University of Antwerp, Belgium; and Department of Medical Genetics (Dr. Seneca), University of Brussels (VUB), Belgium.

Address correspondence and reprint requests to Dr. Christine Van Broeckhoven, Department of Molecular Genetics VIB8, University of Antwerp UA/UIA, Universiteitsplein 1, B-2610 Antwerpen, Belgium; e-mail: christine.vanbroeckhoven{at}ua.ac.be

Both dominant and recessive missense mutations were recently reported in the gene encoding the mitochondrial DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). The authors report on a patient homozygous for a recessive missense mutation in POLG who presented with a multisystem disorder without PEO. The most prominent features were myoclonus, seizure, and sensory ataxic neuropathy, so the clinical picture overlapped with the syndrome of myoclonus, epilepsy, and ragged red fibers (MERRF).

Received March 19, 2003. Accepted in final form August 20, 2003.




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