Familial Ataxia with Isolated Vitamin E Deficiency (AVED)
2003
Publisher Summary Familial isolated vitamin E deficiency, also called ataxia with vitamin E deficiency (AVED), is a rare autosomal recessive neurodegenerative disease characterized, in the typical form, by a progressive cerebellar ataxia, areflexia, deep sensory disturbances, and pyramidal signs resembling Friedreich's ataxia with very reduced serum vitamin E levels in the absence of fat malabsorption. However, wide clinical variability can be observed ranging from a severe Friedreich's ataxia-like presentation to mild neurological impairment or very late onset of the disease. Sensory-evoked potentials (SEPs) show a severe involvement of the posterior columns, whereas peripheral nerve conduction studies give evidence of a mild axonal neuropathy. Pathological lesions consist of generalized neuronal lipofuscin storage associated with a marked degeneration of spinal tracts, predominantly the posterior columns. The defective gene located on chromosome 8ql3.1-ql3.3, encodes a hepatic a-tocopherol transfer protein. This protein is involved in vitamin E transfer into circulating lipoproteins. Low serum vitamin E levels in AVED patients are caused by the failure to incorporate a-tocopherol (vitamin E) into very low density protein (VLDL) in liver because of a-TTP gene defects.
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