Pain & Central Nervous System Week via NewsEdge :
2008 AUG 18 - (NewsRx.com) -- A report, 'Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism,' is newly published data in Neuromuscular Disorders (see also Ophthalmoplegia Therapy). According to recent research published in the journal Neuromuscular Disorders, "Different mutations, or combinations of mutations, in POLG1, the gene encoding pol gammaA, 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," wrote F. Invernizzi and colleagues, Neurological Institute.
The researchers concluded: "These observations support the hypothesis that mtDNA dysfunction is engaged in the pathogenesis of idiopathic Parkinson's disease."
Invernizzi and colleagues published their study in Neuromuscular Disorders (Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. Neuromuscular Disorders, 2008;18(6):460-4).
For additional information, contact F. Invernizzi, Unit of Molecular Neurogenetics, Pierfranco e Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, C Besta Neurological Institute Foundation-IRCCS, Milan, Italy.
The publisher's contact information for the journal Neuromuscular Disorders is: Pergamon-Elsevier Science Ltd., the Boulevard, Langford Lane, Kidlington, Oxford OX5 1GB, England.
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