| Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case. | |
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MedLine Citation:
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PMID: 20408961 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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The 13513G>A mutation in the ND5 gene of mitochondrial DNA (mtDNA) is usually associated with mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS), or Leigh syndrome (LS). In this study, we describe three young Chinese patients with MELAS/LS overlap syndrome who carried the m.13513G>A mutation. Clinical and MRI features were characteristic of both MELAS and LS. Interestingly, the clinical presentation of this overlap syndrome could be variable depending on the degree of relative contribution of MELAS and LS, that is, MELAS as the initial presenting syndrome, LS as the predominant syndrome, or both MELAS and LS appearing at the same time. The final brain MRI showed findings characteristic of both MELAS and LS, with asymmetrical lesions in the cortex and subcortical white matter of the occipital, temporal, and frontal lobes (MELAS), and bilateral and symmetrical lesions in the basal ganglia and brainstem (LS). Brain autopsy in one case revealed infarct-like lesions in the cerebral cortex, basal ganglia and brainstem, providing further insight into the distribution of the pathological lesions in MELAS/LS overlap syndrome. This is the first report of the brain pathological changes in a patient with m.13513G>A mutation. The spatial distribution of infarct-like lesions in the brain could explain the symptoms in MELAS/LS overlap syndrome. |
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Authors:
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Zhaoxia Wang; Xiao Kun Qi; Sheng Yao; Bin Chen; Xinghua Luan; Wei Zhang; Manfu Han; Yun Yuan |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Neuropathology : official journal of the Japanese Society of Neuropathology Volume: 30 ISSN: 1440-1789 ISO Abbreviation: Neuropathology Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-11-25 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9606526 Medline TA: Neuropathology Country: Australia |
Other Details:
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Languages: eng Pagination: 606-14 Citation Subset: IM |
Copyright Information:
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© 2010 Japanese Society of Neuropathology. |
Affiliation:
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Department of Neurology, Peking University First Hospital, Beijing, China. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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