Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype.
BACKGROUND
We describe a patient with clinical and radiological findings suggestive of multiple system atrophy of the cerebellar subtype (MSA-C).


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.


CONCLUSIONS
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.
Movement Disorder Clinic, Toronto Western Hospital, University of Toronto, Toronto, Canada.
Arpan R
AR
Mehta
Susan H
SH
Fox
Mark
M
Tarnopolsky
Grace
G
Yoon
D002531:Cerebellum / Q000000981:diagnostic imaging / Q000473:pathology*; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology; D011877:Radionuclide Imaging; D017384:Sequence Deletion / Q000235:genetics
D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human