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

More general terms

• genetic disease of the central nervous system
• metabolic disease

Database

• OMIM: https://mirror.omim.org/entry/277460
• OMIM: https://mirror.omim.org/entry/600415