| Friedreich-Like Ataxia as an Initial Manifestation of Mitochondrial DNA 8344A>G Mutation. | |
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MedLine Citation:
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PMID: 22241709 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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A previously healthy 10-year-old girl presented with subacute onset of ataxia and acute-onset cardiac and pulmonary failure. Magnetic resonance imaging (MRI) of the brain showed symmetric T2fluid-attenuated inversion recovery hyperintensities in the dorsal pons, medulla, and inferior cerebellar peduncles; nerve conduction velocities and electromyography demonstrated a sensorimotor axonal neuropathy consistent with Friedreich ataxia. Within 12 months, the patient fully recovered and molecular testing of the frataxin gene was unremarkable. Two years later, the patient returned with acute neurologic decompensation and died one month later from progressive demyelination of the brainstem. Mitochondrial DNA sequencing revealed a mutation at 8344A>G in transfer RNA lysine with heteroplasmy at 98% consistent with a diagnosis of a primary mitochondrial disorder. |
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Authors:
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Justyna A Chevallier; Mary Kay Koenig |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-1-12 |
Journal Detail:
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Title: Journal of child neurology Volume: - ISSN: 1708-8283 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-1-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Health Science Center, Houston, TX, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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