Abstract
We describe a patient who presented with parkinsonism associated with the A8344G myoclonus epilepsy, ataxia, and myopathy with ragged red fibers mutation in the tRNA(Lys) 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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Alanine / genetics
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Amino Acid Substitution / genetics*
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Glycine / genetics
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Humans
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MERRF Syndrome / complications
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MERRF Syndrome / genetics*
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MERRF Syndrome / pathology
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Male
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Muscle, Skeletal / pathology
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Muscular Diseases / complications
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Muscular Diseases / genetics
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Muscular Diseases / pathology
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Mutation
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Parkinson Disease / complications
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Parkinson Disease / genetics*
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Parkinson Disease / pathology
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RNA, Transfer, Lys / genetics*
Substances
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RNA, Transfer, Lys
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Alanine
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Glycine