Synonym: ataxia with vitamin E deficiency (AVED)
Inheritance: autosomal recessive
Defect: selective impairment of vitamin E absorption from the gastrointestinal tract due to a mutation of the tocopherol (alpha) transfer protein (TTPA)
Onset: usually during childhood, but may present in middle age
Clinical and laboratory features:
(1) progressive spinocerebellar syndrome with ataxia
(2) areflexia
(3) decreased proprioception
(4) decreased vibration sense
(5) low serum vitamin E level
(6) positive response to parenteral administration of vitamin E
Differential diagnosis:
(1) Friedreich's ataxia
(2) vitamin E deficiency associated with malabsorption
