Federico, A. and Dotti, M. (2003) Cerebrotendinous xanthomatosis: Clinical manifestations, diagnostic criteria, pathogenesis and therapy. Journal of Child Neurology, 18, 633-638. doi:10.1177/08830738030180091001

has been cited by the following article:

• TITLE: Enlarged cauda equina nerve roots in Cerebrotendinous Xanthomatosis

  AUTHORS: Peter Kalina

  KEYWORDS: Cerebrotendinous Xanthomatosis; Cauda Equina; Peripheral Neuropathy

  JOURNAL NAME: Open Journal of Clinical Diagnostics, Vol.1 No.3, December 9, 2011

  ABSTRACT: CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27- sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholic acid (CDCA), a primary bile acid. Abnormal bile acid synthesis leads to elevated plasma Cholestanol (a derivative of cholesterol) accumulation, especially in the lens, central nervous system (CNS) and tendons.