Results 11 to 20 of about 1,415 (156)
A preventable ataxia: Cerebrotendinous xanthomatosis
Annals of Indian Academy of Neurology, 2019 Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development ...
Bhagya Shaji +2 more
doaj +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 +2 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 [PDF]
Neurology, 2006 Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by a mutation in the sterol 27-hydroxylase (CYP27) gene1,2. It is important that orthopaedic surgeons be aware of this condition because the initial presentation may be symmetric, painful enlargement and deformity of the Achilles tendons.
Ludger, Schöls +3 more
+5 more sources
Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings
European Medical Journal Neurology, 2023 Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues.
Shubham Saini, Neha Bagri
doaj +1 more source
Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis
Radiology Case Reports, 2022 Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by a bile acid metabolic problem that causes cholesterol metabolites to accumulate in various organs. There are 2 types of CTX: traditional and spinal.
Hind Sahli, MD +5 more
doaj +1 more source
Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time [PDF]
Indian Dermatology Online JournalParag Suresh +3 more
doaj +2 more sources
Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice [PDF]
Frontiers in PsychiatryJongtae Kim +2 more
exaly +2 more sources
Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment
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 +1 more source
Adult-Onset Treatable Leukodystrophy: Cerebrotendinous Xanthomatosis
Neuropsychiatric Investigation, 2022 Cerebrotendinous xanthomatosis is a leukodystrophy resulting from sterol 27-hydroxylase enzyme deficiency caused by CYP27A1 gene mutations. It is characterized by diarrhea and cataract in children, xanthomas in adolescents, and progressive neurologic ...
Gülçin Benbir Şenel +4 more
doaj +1 more source