High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis.
Journal of Lipid Research, 1991 We measured the cholestanol, cholesterol precursor (lathosterol), and plant sterol (campesterol and sitosterol) concentrations of serum and bile in 11 patients with cerebrotendinous xanthomatosis.
M Kuriyama +3 more
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A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
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
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NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges. [PDF]
, 2021 The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases.
Atallah, I. +6 more
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Context-dependent compensation among phosphatidylserine-recognition receptors [PDF]
, 2017 Phagocytes express multiple phosphatidylserine (PtdSer) receptors that recognize apoptotic cells. It is unknown whether these receptors are interchangeable or if they play unique roles during cell clearance.
Han, Claudia Z +11 more
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A case report on cerebrotendinous xanthomatosis [PDF]
, 2017 Cerebrotendinous xanthomatosis (CTX) is a rare hereditary neuro-metabolic disease in which deposition of cholesterol and cholestanol occurs in various tissues including CNS.
Babu, Abino Mariya +4 more
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Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings
Archives of Medicine and Health Sciences, 2020 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of effective bile acid biosynthesis (adult lipid storage disorder with the underlying mutation in the CYP27 gene, which encodes sterol 27-hydroxylase, a key enzyme in the ...
S Sheetal, P Byju
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Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice [PDF]
, 2022 Use of next-generation sequencing, including whole-exome sequencing (WES) has not only allowed diagnosis to be reached in patients with atypical phenotypes, but also led to detection of new pathogenic variants, as well as to linking of specific clinical ...
Merello, Marcelo Jorge +3 more
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Charge-tagging liquid chromatography–mass spectrometry methodology targeting oxysterol diastereoisomers [PDF]
, 2017 The introduction of a hydroxy group to the cholesterol skeleton introduces not only the possibility for positional isomers but also diastereoisomers, where two or more isomers have different configurations at one or more of the stereocentres but are not ...
Abdel-Khalik +30 more
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Cerebrotendinous xanthomatosis - A case report
Indian Journal of Radiology and Imaging, 2019 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and ...
Arshed Hussain Parry +3 more
doaj +1 more source
Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia [PDF]
, 2023 Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by a mutation in the CYP27A1 gene. Due to the disruption of bile acid synthesis leading to cholesterol and cholestanol accumulation, CTX manifests
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