Results 1 to 10 of about 1,415 (153)
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.
Joanna Tarasiuk +2 more
exaly +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.
Levade Thierry, Matta Anthony
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
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
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
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
Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report [PDF]
Archives of Endocrinology and MetabolismSitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease.
Felipe Augusto Azevedo Leão +3 more
doaj +2 more sources
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 +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