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 +4 more sources
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis. [PDF]
Muscle NerveABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Camelo-Filho AE +8 more
europepmc +2 more sources
Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis. [PDF]
J Inherit Metab DisABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Bouwhuis N +9 more
europepmc +2 more sources
FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy. [PDF]
Health Sci RepABSTRACT Background and Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to deficient sterol 27‐hydroxylase activity. This enzyme is critical for bile acid synthesis, and its dysfunction results in reduced chenodeoxycholic acid (CDCA) levels and subsequent accumulation of ...
Jalal L, Basaria AAA, Yokolo H.
europepmc +2 more sources
Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports. [PDF]
JPGN RepAbstract Alagille syndrome (ALGS) is a rare, autosomal dominant disorder which presents with a broad range of clinical manifestations, including cholestatic pruritus. A unique manifestation of ALGS is the presence of xanthomas in 24%–42% of patients, which can lead to liver transplantation.
Bora G, Quiros-Tejeira RE, Vitola B.
europepmc +2 more sources
Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report [PDF]
Journal of Medical Case ReportsBackground Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder involving bile acid biosynthesis. Reduced mitochondrial cytochrome P450 enzyme activity leads to abnormal lipid accumulation in various tissues, especially ...
Yushi Oyama +5 more
doaj +2 more sources
Diffuse plane xanthomas as the first manifestation of multiple myeloma. [PDF]
J Dtsch Dermatol GesJDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 11, Page 1451-1453, November 2025.
Koutra E +5 more
europepmc +2 more sources
Case report: Cerebrotendinous xanthomatosis treatment follow-up
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 +3 more sources
Information Theory Analysis of CTX Shows Consistent Clinical Presentation. [PDF]
J Inherit Metab DisABSTRACT Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile‐onset chronic diarrhea, juvenile‐onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction.
Hanson J, Bonnen PE.
europepmc +2 more sources
Cerebrotendinous xanthomatosis
Indian Dermatology Online Journal, 2016 Mahalakshmi Muniaswamy +3 more
doaj +3 more sources