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.
Karolina Ejsmont-Sowała +9 more
doaj +6 more sources
FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy. [PDF]
Health Sci RepCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to deficient sterol 27‐hydroxylase activity.
Jalal L, Basaria AAA, Yokolo H.
europepmc +3 more sources
Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment. [PDF]
Clin GenetCerebrotendinous xanthomatosis (CTX) is an inherited metabolic disease due to biallelic pathogenic variants in CYP27A1. We report a newly diagnosed patient and the outcome of the chenodeoxycholic acid (CDCA) treatment.
Sultan R +6 more
europepmc +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
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
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.
Anthony Matta +5 more
doaj +3 more sources
Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time [PDF]
Indian Dermatology Online JournalParag Suresh +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
Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice. [PDF]
Front 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 ...
Kim J +6 more
europepmc +2 more sources
Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition. [PDF]
Eur J NeurolCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by abnormal bile acid synthesis. It often presents with systemic and neurological manifestations; however, atypical presentations can lead to ...
O'Keefe E, Kiernan M, Huynh W.
europepmc +2 more sources