Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency.
A 62-year-old man and his maternal uncle had a selective vitamin E deficiency without generalized fat malabsorption. A progressive neurological disorder comprising ataxia, areflexia, and loss of proprioception developed in their sixth and seventh decades. The vitamin E deficiency is thought to be due to abnormally accelerated utilization, excretion, or degradation of the vitamin. This adult-onset spinocerebellar syndrome is due to vitamin E deficiency not caused by malabsorption.
D000367:Age Factors; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009474:Neurons / Q000473:pathology; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D024505:Tocopherols; D014810:Vitamin E / Q000031:analogs & derivatives / Q000627:therapeutic use; D014811:Vitamin E Deficiency / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D024502:alpha-Tocopherol / Q000031:analogs & derivatives*
D014810:Vitamin E; D024502:alpha-Tocopherol; D024505:Tocopherols