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Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present


The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstrate that the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants in the POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant [NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizable features of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such as sodium valproate. A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosis may have implications for further investigations and management.

Type Journal
ISBN 2005-940X (Print) 2005-940X (Linking)
Authors Qiu, J.; Kumar, K. R.; Watson, E.; Ahmad, K.; Sue, C. M.; Hayes, M. W.
Responsible Garvan Author Dr Kishore Kumar
Publisher Name Journal of Movement Disorders
Published Date 2021-05-31
Published Volume 14
Published Issue 2
Published Pages 157-160
Status Published in-print
DOI 10.14802/jmd.20159
URL link to publisher's version