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BMC Neurology

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Open Access 01-12-2013 | Case report

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism

Authors: Rachel Dolhun, Erin M Presant, Peter Hedera

Published in: BMC Neurology | Issue 1/2013

Abstract

Background

Mutations in the POLG1 gene have variable phenotypic presentations and a high degree of clinical suspicion is necessary for their recognition. Parkinsonism and ataxia are the most common movement disorders associated with POLG1 mutations but no phenotype-genotype correlation has been established.

Case presentation

We identified a male patient with progressive external ophthalmoplegia who also developed a progressive bradykinesia, rigidity and camptocormia in the third decade. Parkinsonism was partially responsive to dopaminegic replacement. His father and brother had reportedly similar clinical problems. Genetic analysis identified a novel mutation p.K512M in the POLG1 gene.

Conclusion

This report further expands the spectrum of POLG1-associated neurologic problems with the report of a novel mutation in the linker region of the gene, which are rarely associated with parkinsonism.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2377/13/92/prepub

Title: Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism
Authors: Rachel Dolhun
Erin M Presant
Peter Hedera
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: BMC Neurology / Issue 1/2013
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/1471-2377-13-92

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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