Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.
We describe a patient with cerebrotendinous xanthomatosis who was treated for one year with chenodeoxycholic acid. Modest clinical improvement was accompanied by marked improvement in visual and brainstem auditory evoked potentials. Improved central nervous system function coincided with return of plasma and cerebrospinal fluid cholestanol levels to normal.
D000328:Adult; D001927:Brain Diseases / Q000188:drug therapy* / Q000378:metabolism / Q000503:physiopathology; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use*; D002784:Cholesterol / Q000097:blood / Q000134:cerebrospinal fluid; D005071:Evoked Potentials; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000188:drug therapy / Q000378:metabolism / Q000503:physiopathology; D009431:Neural Conduction; D013710:Tendons; D014973:Xanthomatosis / Q000188:drug therapy* / Q000378:metabolism / Q000503:physiopathology
D002635:Chenodeoxycholic Acid; D002784:Cholesterol