| POLG1 manifestations in childhood. | |
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MedLine Citation:
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PMID: 21357833 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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OBJECTIVE: Mitochondrial DNA polymerase γ (POLG1) mutations in children often manifest as Alpers syndrome, whereas in adults, a common manifestation is mitochondrial recessive ataxia syndrome (MIRAS) with severe epilepsy. Because some patients with MIRAS have presented with ataxia or epilepsy already in childhood, we searched for POLG1 mutations in neurologic manifestations in childhood. METHODS: We investigated POLG1 in 136 children, all clinically suspected to have mitochondrial disease, with one or more of the following: ataxia, axonal neuropathy, severe epilepsy without known epilepsy syndrome, epileptic encephalopathy, encephalohepatopathy, or neuropathologically verified Alpers syndrome. RESULTS: Seven patients had POLG1 mutations, and all of them had severe encephalopathy with intractable epilepsy. Four patients had died after exposure to sodium valproate. Brain MRI showed parieto-occipital or thalamic hyperintense lesions, white matter abnormality, and atrophy. Muscle histology and mitochondrial biochemistry results were normal in all. CONCLUSIONS: POLG1 analysis should belong to the first-line DNA diagnostic tests for children with an encephalitis-like presentation evolving into epileptic encephalopathy with liver involvement (Alpers syndrome), even if brain MRI and morphology, respiratory chain activities, and the amount of mitochondrial DNA in the skeletal muscle are normal. POLG1 analysis should precede valproate therapy in pediatric patients with a typical phenotype. However, POLG1 is not a common cause of isolated epilepsy or ataxia in childhood. |
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Authors:
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P Isohanni; A H Hakonen; L Euro; I Paetau; T Linnankivi; E Liukkonen; T Wallden; L Luostarinen; L Valanne; A Paetau; J Uusimaa; T Lönnqvist; A Suomalainen; H Pihko |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Neurology Volume: 76 ISSN: 1526-632X ISO Abbreviation: Neurology Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-03-01 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0401060 Medline TA: Neurology Country: United States |
Other Details:
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Languages: eng Pagination: 811-5 Citation Subset: AIM; IM |
Affiliation:
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Research Program of Molecular Neurology, Biomedicum Helsinki, C518b, Haartmaninkatu 8, University of Helsinki, 00290 Helsinki, Finland pirjo.isohanni@helsinki.fi. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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