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POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review

2 Apr 2019

Abstract excerpt

Polymerase gamma (POLG) is an enzyme responsible for the replication and repair of mitochondrial DNA. Mutations in POLG may cause variable clinical manifestations, including parkinsonism, epilepsy, cerebellar ataxia, neuropathy, and progressive external ophthalmoplegia. However, mutations of this gene are rare in patients with typical Parkinson's disease (PD). We report a man (current age: 59 years) without any...

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PMID: 30941926
DOI: 10.1002/brb3.1281

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