Familial isolated deficiency of vitamin E
Familial isolated deficiency of vitamin E
Definition
Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
Also known as ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency, AVED, familial isolated deficiency of vitamin type E, familial isolated vitamin E deficiency, Friedreich-like ataxia, isolated vitamin E deficiency — per MONDO