Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy.
In this report, we review the clinical, biochemical, pathophysiologic, and therapeutic aspects of cerebrotendinous xanthomatosis. We stress the importance of early diagnosis and treatment. In addition, we describe our experience in treating patients with chenodeoxycholic acid, an essential drug for this disorder that is no longer available.
Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, 53100 Siena, Italy. federico@unisi.it
Antonio
A
Federico
Maria Teresa
MT
Dotti
D017668:Age of Onset; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D006801:Humans; D008279:Magnetic Resonance Imaging; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*
D002635:Chenodeoxycholic Acid