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NEUROLOGY 2007;68:56-58
© 2007 American Academy of Neurology

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys

Rita Horvath, MD, Rudolf Andre Kley, MD, Hanns Lochmüller, MD and Matthias Vorgerd, MD

From the Friedrich-Baur-Institute and Department of Neurology, Ludwig-Maximilians-University, Munich (R.H., H.L.); Medical Genetic Center Munich (R.H.); Neuromuscular Center Ruhrgebiet, Ruhr University, Bochum (M.V., R.A.K.), Germany.

Address correspondence and reprint requests to Dr. Rita Horvath, Medical Genetic Center Munich, Bayerstr. 3-5, 80335 Munich, Germany; e-mail: Rita.Horvath{at}lrz.uni-muenchen.de

We describe a patient who presented with parkinsonism associated with the A8344G myoclonus epilepsy, ataxia, and myopathy with ragged red fibers mutation in the tRNALys gene. In addition, neurogenic changes and mitochondrial myopathy with ragged red fibers were observed. Neither myoclonus epilepsy nor other clinical signs described in association with A8344G were noted. Similar to previously reported patients with parkinsonism and mtDNA deletions, the symptoms of our patient responded favorably to levodopa therapy.

M.V. and H.L. are members of the German Network on Muscular Dystrophies (MD-NET, 01GM0601) funded by the German Ministry of Education and Research (BMBF, Bonn, Germany).

Disclosure: The authors report no conflicts of interest.

Received May 16, 2006. Accepted in final form September 15, 2006.






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