Catalog

Spinocerebellar ataxia due to vitamin E deficiency

No MMS code

Link to WHO Definition

Spinocerebellar ataxia due to vitamin E deficiency – http://id.who.int/icd/entity/234085898

Ataxia due to vitamin E deficiency (AVED) is an autosomal recessive disease, which presents similarly to Friedreich ataxia (FA) with a low plasma vitamin E concentration, although there is no consensus for diagnostic criteria. In most cases, molecular analysis of TTPA, the gene encoding ?-tocopherol transfer protein and the only gene in which mutations are known to cause AVED, allows confirmation of the diagnosis. Vitamin E supplementation improves symptoms and prognosis.