Source:http://linkedlifedata.com/resource/pubmed/id/18502641
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2008-6-24
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pubmed:abstractText |
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. These observations support the hypothesis that mtDNA dysfunction is engaged in the pathogenesis of idiopathic Parkinson's disease.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0960-8966
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
460-4
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pubmed:meshHeading |
pubmed-meshheading:18502641-DNA, Mitochondrial,
pubmed-meshheading:18502641-DNA Mutational Analysis,
pubmed-meshheading:18502641-DNA-Directed DNA Polymerase,
pubmed-meshheading:18502641-Humans,
pubmed-meshheading:18502641-Male,
pubmed-meshheading:18502641-Middle Aged,
pubmed-meshheading:18502641-Mutation,
pubmed-meshheading:18502641-Ophthalmoplegia, Chronic Progressive External,
pubmed-meshheading:18502641-Parkinsonian Disorders,
pubmed-meshheading:18502641-Sequence Analysis, Protein,
pubmed-meshheading:18502641-Tremor
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pubmed:year |
2008
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pubmed:articleTitle |
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.
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pubmed:affiliation |
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.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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