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Article

Ataxia caused by mutations in the alpha-tocopherol transfer protein gene.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2000

Usuki F, Maruyama K

Abstract excerpt

A 48 year old woman with ataxia with vitamin E deficiency is described. Gene analysis identified two point mutations in exon 1 of the alpha-tocopherol transfer protein (alpha-TTP) gene, one missense mutation and an upstream initiation codon mutation in the 5'-untranslated region (Kozak sequence). The latter mutation is the first one identified in the translation regulatory region. This mutation decreased the...

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Identifiers

PMID: 10896705
DOI: 10.1136/jnnp.69.2.254
PMCID: PMC1737064

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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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