Results 11 to 20 of about 2,313 (193)
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 +4 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
exaly +4 more sources
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
exaly +4 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: A practice review of pathophysiology, diagnosis, and treatment [PDF]
Frontiers in Neurology, 2022 Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene.
Paulo Ribeiro Nóbrega +20 more
doaj +2 more sources
Dermatologica Sinica, 2018 Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase.
Jeng Yuan +3 more
doaj +2 more sources
Cerebrotendinous xanthomatosis and infertility: A case report [PDF]
Clinical Case Reports, 2022 Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues.
Narges Karimi +3 more
doaj +2 more sources
A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene [PDF]
Journal of Investigative Medicine High Impact Case Reports, 2023 Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid.
Hamed Ghoshouni MD +4 more
doaj +2 more sources
Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review [PDF]
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023 Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease that occurs as result of mutation in the CYP27A1 gene. The clinical presentation of the disease is quite wide.
Sinan Eliaçık, Gülsüm Çil
doaj +2 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 +2 more sources