Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype

Authors

  • Arpan R. Mehta B.A., B.M., B.Ch.,,

    1. Movement Disorder Clinic, Toronto Western Hospital, University of Toronto, Toronto, Canada
    Current affiliation:
    1. Medical Sciences Division, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom
    Search for more papers by this author
  • Susan H. Fox M.R.C.P., Ph.D.,,

    1. Movement Disorder Clinic, Toronto Western Hospital, University of Toronto, Toronto, Canada
    Search for more papers by this author
  • Mark Tarnopolsky M.D., Ph.D., F.R.C.P.,

    1. Division of Neuromuscular and Neurometabolic Disease, McMaster University Medical Center, Hamilton, Canada
    Search for more papers by this author
  • Grace Yoon M.D., F.R.C.P., F.C.C.M.G.

    Corresponding author
    1. Divisions of Clinical/Metabolic Genetics and Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Canada
    • Divisions of Clinical/Metabolic Genetics and Neurology, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada

    Search for more papers by this author

  • Relevant conflict of interest: Nothing to report.

Abstract

Background: We describe a patient with clinical and radiological findings suggestive of multiple system atrophy of the cerebellar subtype (MSA-C). Methods/Results: Sequencing of the polymerase-γ 1 (POLG1) gene revealed the patient had compound heterozygous mutations of the POLG1 gene. Muscle biopsy revealed the presence of multiple mitochondrial DNA deletions and depletion, confirming the pathogenic nature of the POLG1 mutations. Discussion: This case expands the spectrum of phenotypes associated with POLG1 mutations to include multiple system atrophy and prompts further consideration regarding whether routine screening for POLG1 mutations is indicated in this patient population. © 2011 Movement Disorder Society

Ancillary