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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 publication




Journal article


Mov Disord

Publication Date





753 - 755


Cerebellum, DNA Polymerase gamma, DNA, Mitochondrial, DNA-Directed DNA Polymerase, Female, Humans, Magnetic Resonance Imaging, Middle Aged, Multiple System Atrophy, Muscle, Skeletal, Radionuclide Imaging, Sequence Deletion