Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype

Arpan R. Mehta, Susan H. Fox, Mark Tarnopolsky, Grace Yoon (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)753-755
Number of pages3
JournalMovement Disorders
Issue number4
Early online date21 Jan 2011
Publication statusPublished - 19 Apr 2011


  • Cerebellum/diagnostic imaging
  • polymerase gamma gene
  • DNA
  • DNA-Directed DNA Polymerase/genetics
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Multiple System Atrophy
  • Muscle, Skeletal/pathology
  • Radionuclide Imaging
  • Sequence Deletion/genetics
  • mitochondrial disease
  • parkinsonism
  • ataxia


Dive into the research topics of 'Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype'. Together they form a unique fingerprint.

Cite this