| Ataxia with isolated vitamin E deficiency in four siblings. | |
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MedLine Citation:
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PMID: 8972536 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe 4 siblings of a consanguineous Bedouin family with Friedreich ataxia phenotype in whom low serum vitamin E levels without other indicators of fat malabsorption were detected. Although age of onset and some of the clinical features were alike in all 4 patients, the electrophysiological parameters were markedly abnormal in 2, but normal in the other 2. Erythrocytes revealed both membranous and intracellular evidence of oxidative damage. The mutations described in other families with ataxia with isolated vitamin E deficiency were not detectable, nor was an abnormal single-stranded conformation polymorphism pattern apparent in the three exons at the 3' region of the gene. Vitamin E administration in pharmacological doses improved the neurological condition in 2 patients and also corrected some of the patients' erythrocyte cell abnormalities. The finding of vitamin E deficiency in other cases of Friedreich ataxia phenotype may allow treatment at an early stage of the disease, when large dose Vitamin E therapy may reverse the neurological lesions. |
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Authors:
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Z Shorer; R Parvari; G Bril; B A Sela; S Moses |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 15 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 1996 Nov |
Date Detail:
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Created Date: 1997-04-02 Completed Date: 1997-04-02 Revised Date: 2006-05-23 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 340-3 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, B, Soroka Medical Center, Beer Sheva, Israel. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child Consanguinity Dose-Response Relationship, Drug Erythrocytes / metabolism Female Friedreich Ataxia / diagnosis, genetics* Humans Neurologic Examination / drug effects Phenotype Vitamin E / administration & dosage Vitamin E Deficiency / diagnosis, genetics* |
| Chemical | |
Reg. No./Substance:
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1406-18-4/Vitamin E |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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