Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

doi:10.1038/ng0295-141

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Article

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

Nature genetics - 1 Feb 1995

Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel J L, Koenig M

Abstract excerpt

Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an impaired ability to incorporate alpha-tocopherol into lipoproteins secreted by the liver, a function putatively attributable to the alpha-tocop...

Topics

Africa, Northern
Amino Acid Sequence
Ataxia
Base Sequence
Carrier Proteins
Chromosome Mapping
Chromosomes, Human, Pair 8
Denmark
England
Female
France
Germany

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Molecular Sequence Data

Mutation

Pedigree

Sicily

Source

Open in PubMed

Identifiers

PMID: 7719340
DOI: 10.1038/ng0295-141

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7719340-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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