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
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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
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Cerebrotendinous xanthomatosis: a treatable hereditary neuro-metabolic disease [PDF]
Clinics, 2010 Ana Claudia Rodrigues de Cerqueira +2 more
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Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis [PDF]
, 2014 Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved ...
V. Varga +10 more
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2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis [PDF]
BMC Neurology, 2011 Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).
Tian Di, Zhang Zai-qiang
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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
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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
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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
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Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis [PDF]
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
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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
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