Results 1 to 10 of about 2,812 (203)

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
doaj   +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, Madhu Rengasamy, Ramesh Aravamuthan, Manoharan Krishnasamy   +3 more
doaj   +4 more sources

Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report [PDF]

Journal of Medical Case Reports
Background 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, Keishiro Okawa, Takuya Miyagi, Takahiro Sakai, Kyuhachi Otagiri, Hiroshi Kitabayashi   +5 more
doaj   +2 more sources

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report [PDF]

Archives of Endocrinology and Metabolism
Sitosterolemia 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, Leticia Ferreira Gontijo Silveira, Rodrigo Rezende Arantes, Milena Maria Moreira Guimarães   +3 more
doaj   +2 more sources

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis [PDF]

Neurology International
Background: 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

Case report: Cerebrotendinous xanthomatosis treatment follow-up [PDF]

Frontiers in Neurology
Xanthomatosis is a genetic disease inherited in an autosomal recessive manner. The specific phenotypic features are associated with patient’s genetic profile.
Karolina Ejsmont-Sowała, Tomasz Książek, Katarzyna Maciorowska-Rosłan, Joanna Rosłan, Agata Czarnowska, Anna Jakubiuk-Tomaszuk, Anna Jakubiuk-Tomaszuk, Joanna Tarasiuk, Katarzyna Kapica-Topczewska, Alina Kułakowska   +9 more
doaj   +2 more sources

An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis [PDF]

Reports
Background 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, Mari Hachmeriyan, Margarita Grudkova, Mihael Tsalta-Mladenov, Ara Kaprelyan   +4 more
doaj   +2 more sources

Cerebrotendinous xanthomatosis: a literature review and case study [PDF]

Frontiers in Cardiovascular Medicine
Cerebrotendinous 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.
Anthony Matta, Anthony Matta, Fabienne Ory Magne, Thierry Levade, Fabrice Bonneville, Jean Ferrières   +5 more
doaj   +2 more sources

Cerebrotendinous Xanthomatosis [PDF]

Neurology, 2000
Patni N, Wilson DP.
europepmc   +3 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, Thomas, Nägele, Rebecca, Schüle, Daniela, Berg   +3 more
  +5 more sources