Abstract
Different mutations, or combinations of mutations, in POLG1, the gene encoding pol γA, 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 pseudo-orthostatic tremor evolving into levodopa-responsive parkinsonism. These observations support the hypothesis that mtDNA dysfunction is engaged in the pathogenesis of idiopathic Parkinson's disease.
Original language | English |
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Pages (from-to) | 460-464 |
Number of pages | 5 |
Journal | Neuromuscular Disorders |
Volume | 18 |
Issue number | 6 |
DOIs | |
Publication status | Published - Jun 2008 |
Keywords
- Mitochondrial DNA
- Multiple mtDNA deletions
- Parkinsonism
- Polymerase gamma
- Progressive external ophthalmoplegia
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology