Learn About Cerebrotendinous Xanthomatosis

What is the definition of Cerebrotendinous Xanthomatosis?
Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body (lipid storage disease). People with this disorder cannot break down certain lipids effectively (such as cholesterol), so these fats form fatty yellow nodules called xanthomas, that accumulate in the body, especially in the brain and the tendons that attach muscle to bone, which is reflected in the condition name (cerebro- meaning brain and -tendinous referring to tendons). Symptoms may include diarrhea, clouding of the lens of the eyes (cataracts), tendon problems and progressive neurologic problems, such as epilepsy, movement disorders, impaired speech (dysarthria), loss of sensation in the arms and legs (peripheral neuropathy), dementia, hallucinations, and depression. Other symptoms may include brittle bones that are prone to fracture (osteoporosis) and an increased risk of developing heart or lung failure because of lipid buildup. It is caused by genetic changes in the CYP27A1 gene.
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What are the alternative names for Cerebrotendinous Xanthomatosis?
  • Cerebrotendinous xanthomatosis
  • CTX
  • Cerebral cholesterinosis
  • Sterol 27-hydroxylase deficiency
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What are the latest Cerebrotendinous Xanthomatosis Clinical Trials?
An Observational Study With Retrospective and Prospective Evaluations to Determine the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disorder in Juvenile Cataract Cases in Turkey

Summary: Epidemiologic observational study. Study will include two phases: Retrospective cross-sectional phase: At this stage of the study, retrospective screenings are carried out at study sites and all juvenile cataract cases are planned to be determined. Prospective phase: At this stage of the study, identified juvenile cataract cases as a result of retrospective screenings will be called to be invited ...

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ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

Summary: ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of d...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Cerebrotendinous Xanthomatosis?
Endoscopic resection of tendon xanthoma in the elbow of a patient with cerebrotendinous xanthomatosis.
Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey.
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