Research articleCerebrotendinous xanthomatosis: Clinical and biochemical evaluation of eight patients and review of the literature
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Cited by (89)
Lysosomal Storage Disorders
2020, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic DisordersCerebrotendinous xanthomatosis
2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1Bile Acids and Bile Flow: New Functions of Old Molecules
2017, Zakim and Boyer's Hepatology: A Textbook of Liver DiseaseAn unusual cause of Achilles tendon xanthoma
2016, Journal of Clinical LipidologyCitation Excerpt :Data from a large exome study indicate that the true prevalence of this disease is most likely underestimated.11 CTX is caused by biallelic loss-of-function mutations in the CYP27A1 gene.8,12,13 This gene is located on chromosome 2q33-qter and encodes a mitochondrial enzyme, sterol 27-hydroxylase, which catalyses the first step in the oxidation of the cholesterol side chain.9,14
Cerebrotendinous Xanthomatosis
2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth EditionA useful multi-analyte blood test for cerebrotendinous xanthomatosis
2014, Clinical BiochemistryCitation Excerpt :The plasma ketosterol concentrations determined with LC–ESI-MS/MS were 795, 1548, and 1004 ng/mL for 7αC4, 7α12αC4 and 7α12αC5β respectively (with upper normal concentrations of 22, 0.8, and 29 ng/mL determined; for reference ranges see Table 1). Molecular genetic testing confirmed the individual possessed a homozygous R474Q CYP27A1 gene mutation, previously reported to be a causative mutation for CTX [10]. 5α-Cholestanol can be elevated in a number of liver diseases and concerns have been raised regarding the specificity of this disease marker for CTX [11].