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Article

Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 1998

Hammans S R, Kennedy C R

Abstract excerpt

Ataxia with vitamin E deficiency is an autosomal recessive condition associated with a defect in the a-tocopherol transfer protein. Clinically it manifests as a progressive ataxia with a phenotype resembling that of Friedreich's ataxia. There is some evidence that progression of neurological symptoms is prevented by vitamin E therapy. A patient is described who was given a clinical diagnosis of Friedreich's...

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Identifiers

PMID: 9527151
DOI: 10.1136/jnnp.64.3.368
PMCID: PMC2170015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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