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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2002-12-9
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pubmed:abstractText |
Ataxia with vitamin E deficiency is a recessive autosomal neurodegenerative disorder resembling the Friedreich ataxia phenotype but is due to mutations in the alpha-tocopherol transfer protein (TTPA) gene. In a recent article, we described a patient with ataxia carrying reduced serum vitamin E levels and showing CTA/CTG expansions of 320 triplet repeats in the SCA8 gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0003-9942
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1952-3
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:12470185-Adult,
pubmed-meshheading:12470185-Carrier Proteins,
pubmed-meshheading:12470185-Female,
pubmed-meshheading:12470185-Humans,
pubmed-meshheading:12470185-Male,
pubmed-meshheading:12470185-Nerve Tissue Proteins,
pubmed-meshheading:12470185-Pedigree,
pubmed-meshheading:12470185-RNA, Untranslated,
pubmed-meshheading:12470185-Spinocerebellar Ataxias,
pubmed-meshheading:12470185-Trinucleotide Repeat Expansion,
pubmed-meshheading:12470185-Vitamin E Deficiency
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pubmed:year |
2002
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pubmed:articleTitle |
A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.
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pubmed:affiliation |
Department of Neurological and Psychiatric Sciences, University of Florence, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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