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Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype
Author(s) -
Mehta Arpan R.,
Fox Susan H.,
Tarnopolsky Mark,
Yoon Grace
Publication year - 2011
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23510
Subject(s) - mutation , genetics , biology , atrophy , phenotype , gene , mitochondrial dna , compound heterozygosity , pathology , medicine
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