Medical

ataxia with isolated vitamin E deficiency

An autosomal recessive disorder (OMIM:277460) characterised by spinocerebellar degeneration, ataxia and peripheral neuropathy resembling Friedreich’s ataxia, and markedly reduced plasma levels of vitamin E.

Molecular pathology
Defects of TTPA, which encodes a protein that selectively and tightly binds alpha-trocopherol (vitamin E), cause ataxia with vitamin E deficiency.

References in periodicals archive

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

Serum vitamin E and lipid-adjusted vitamin E assessment in Friedreich ataxia phenotype patients and unaffected family members

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