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.
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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
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Device-Aided Treatment of Parkinsonism in Cerebrotendinous Xanthomatosis. [PDF]
Mov Disord Clin PractCerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disorder, 1,2 characterized by juvenile cataracts, xanthomas, diarrhea, pyramidal and cerebellar signs, polyneuropathy, neuropsychiatric alterations, epilepsy and movement disorders.
Salamon A +3 more
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Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy. [PDF]
Orphanet J Rare DisCerebrotendinous xanthomatosis (CTX) is a rare treatable bile acid disorder caused by homozygous or compound heterozygous variants in CYP27A, a gene that encodes the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1). CYP27A1 facilitates the production
Pasternack G, Courtney J, Kalsi G.
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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.
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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.
Nóbrega Paulo Ribeiro +2 more
exaly +3 more sources
Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity. [PDF]
Epilepsy Behav RepHighlights • Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disease of bile synthesis.• Up to 30% of CTX patients have epilepsy.• We show Fixation-Off Sensitivity (FOS) and eye-closure induced seizures in CTX.
Mills Z +3 more
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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
Molecular dynamics, docking and quantum calculations reveal conformational changes influenced by CYP271A amino acid mutations related to cerebrotendinous xanthomatosis. [PDF]
Sci RepCerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid disorder caused by a deficiency in CYP27A1, the first enzyme in the bile acid biosynthesis pathway.
Sixto-López Y +4 more
europepmc +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