title: Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.
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.
authors.affiliation: Friedrich-Baur-Institute and Department of Neurology, Ludwig-Maximilians-University, Munich, Germany. Rita.Horvath@lrz.uni-muenchen.de
authors.forename: Rita
authors.initials: R
authors.lastname: Horvath
authors.forename: Rudolf Andre
authors.initials: RA
authors.lastname: Kley
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.forename: Matthias
authors.initials: M
authors.lastname: Vorgerd
mesh_terms: 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*
chemical_list: D012357:RNA, Transfer, Lys; D000409:Alanine; D005998:Glycine