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Familial isolated deficiency of vitamin E
rareAtaxia 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.
- Identifiers
- MONDO:0010188 OMIM:277460Orphanet:96
- Causal genes
- TTPA
- Part of
- Autosomal recessive metabolic cerebellar ataxiaHereditary peripheral neuropathyInborn vitamin metabolic disorder
- 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
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