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familial isolated vitamin E deficiency (ataxia, Friedreich-like, with selective vitamin E deficiency)
Pathology:
- spinocerebellar degeneration
Genetics:
- associated with defects in TTPA
Clinical manifestations:
- ataxia
- peripheral neuropathy
- resembles Friedreich ataxia
Laboratory:
- markedly reduced plasma vitamin E
General
genetic disease of the central nervous system
metabolic disease
Database Correlations
OMIM correlations
References
UniProt :accession P49638