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Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism by Federica Invernizzi; Sara Varanese; Astrid Thomas; Franco Carrara; Marco Onofrj; Massimo Zeviani is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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Different mutations, or combinations of mutations, in POLG1, the gene encoding pol cA, the catalytic subunit of mitochondrial DNA polymerase, are associated with a spectrum of clinical presentations including autosomal dominant or recessive progressive external ophthalmoplegia (PEO), juvenile-onset ataxia and epilepsy, and Alpers-Huttenlocher syndrome. Parkinsonian features have been reported as a late complication of POLG1-associated dominant PEO. Good response to levodopa or dopamine agonists, reduced dopamine uptake in the corpus striatum and neuronal loss of the Substantia Nigra pars compacta have been documented in a few cases. Here we report two novel mutations in POLG1 in a compound heterozygous patient with autosomal recessive PEO, followed by pseudoorthostatic tremor evolving into levodopa-responsive parkinsonism. These observations support the hypothesis that mtDNA dysfunction is engaged in the pathogenesis of idiopathic Parkinson's disease.

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Author

Federica Invernizzi; Sara Varanese; Astrid Thomas; Franco Carrara; Marco Onofrj; Massimo Zeviani

Publisher

Elsevier BV

Published

2008

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)