期刊
NEUROMUSCULAR DISORDERS
卷 18, 期 6, 页码 460-464出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2008.04.005
关键词
progressive external ophthalmoplegia; parkinsonism; polymerase gamma; mitochondrial DNA; multiple mtDNA deletions
资金
- Telethon [GGP07019] Funding Source: Medline
Different mutations, or combinations of mutations, in POLG1, the gene encoding pol gamma A, 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. (C) 2008 Elsevier B.V. All rights reserved.
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