Case report: Cerebrotendinous xanthomatosis treatment follow-up [PDF]
Frontiers in NeurologyXanthomatosis is a genetic disease inherited in an autosomal recessive manner. The specific phenotypic features are associated with patient’s genetic profile.
Joanna Tarasiuk +2 more
exaly +5 more sources
Cerebrotendinous xanthomatosis: a literature review and case study [PDF]
Frontiers in Cardiovascular MedicineCerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX.
Levade Thierry, Matta Anthony
exaly +5 more sources
Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis [PDF]
Frontiers in NeurologyObjective This study aims to analyze the clinical and genetic characteristics of cerebrotendinous xanthomatosis (CTX) in a Chinese family. Methods Clinical data, including medical history, neurologic and auxiliary examinations, imaging studies, and ...
Guoliang Y +10 more
exaly +3 more sources
Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis [PDF]
Neurology InternationalBackground: Cerebrotendinous Xanthomatosis (CTX) is a rare, inherited metabolic disease caused by pathogenic variants in CYP27A1. The clinical presentation of this progressive disease includes cognitive deficits, ataxia, peripheral neuropathy, and ...
Jennifer Hanson, Penelope E. Bonnen
doaj +3 more sources
Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice [PDF]
Frontiers in PsychiatryIntroduction This case report details the presentation of a patient who initially sought consultation at a psychiatric outpatient clinic with symptoms suggestive of Attention-Deficit/Hyperactivity Disorder (ADHD); however, further evaluation revealed a ...
Jongtae Kim +2 more
exaly +3 more sources
An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis [PDF]
ReportsBackground and Clinical Significance: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to impaired bile acid synthesis and systemic cholesterol deposition. The condition presents
Mariya Levkova +4 more
doaj +3 more sources
Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review [PDF]
Brain Sciences, 2023 Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase.
Braga-Neto P +2 more
exaly +3 more sources
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid replacement.
Tiziano Pramparo +3 more
doaj +3 more sources
Cerebrotendinous xanthomatosis
Indian Dermatology Online Journal, 2016 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease due to a defect in bile acid metabolism. Worldwide, more than 300 patients have been described. Mutations in the CYP27A1 gene result in sterol 27-hydroxylase deficiency leading to the accumulation of cholestanol in multiple body tissues.
Mahalakshmi Muniaswamy +3 more
doaj +4 more sources
Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews. [PDF]
Mol Genet MetabCerebrotendinous Xanthomatosis (CTX) is a treatable, inborn error of bile acids metabolism caused by pathogenic variants in CYP27A1. CTX is a multi-organ system disorder that progresses over decades.
Hanson J, Bonnen PE.
europepmc +2 more sources