Pilo, B., De Blas, G. and Sobrido, M. (2011) Neurophysiological study in cerebrotendinous xanthomatosis. Muscle Nerve, 43, 531-536. doi:10.1002/mus.21905

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.