Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.
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.
Horvath
Rita
R
Friedrich-Baur-Institute and Department of Neurology, Ludwig-Maximilians-University, Munich, Germany. Rita.Horvath@lrz.uni-muenchen.de
Kley
Rudolf Andre
RA
Lochmüller
Hanns
H
Vorgerd
Matthias
M
D000368:Aged; D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D006801:Humans; D017243:MERRF Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D009154:Mutation; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012357:RNA, Transfer, Lys / Q000235:genetics*
D012357:RNA, Transfer, Lys; D000409:Alanine; D005998:Glycine