Newcastle University

Publication:

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys (2007)

Author(s): Horvath R; Kley RA; Lochmuller H; Vorgerd M

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.

• Date: 02-01-2007
• Journal: Neurology
• Volume: 68
• Issue: 1
• Pages: 56-8
• Publisher: Lippincott Williams & Wilkins
• Publication type: Article
• Bibliographic status: Published

• Author Address: Friedrich-Baur-Institute and Department of Neurology, Ludwig-Maximilians-University, Munich, Germany. Rita.Horváth@lrz.uni-muenchen.de
• URL: http://dx.doi.org/10.1212/01.wnl.0000250334.48038.7a
• DOI: 10.1212/01.wnl.0000250334.48038.7a
• ISSN (electronic): 1526-632X

Keywords: Aged Alanine/genetics Amino Acid Substitution/ genetics Glycine/genetics Humans MERRF Syndrome/complications/ genetics/pathology Male Muscle, Skeletal/pathology Muscular Diseases/complications/genetics/pathology Mutation Parkinson Disease/complications/ genetics/pathology RNA, Transfer, Lys/ genetics