About Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is caused by mutations in CYP27A1 encoding sterol 27-hydroxylase, which is essential for normal bile acid synthesis. Accumulation of cholestanol and cholesterol in tissues causes tendon xanthomas, premature cataracts, chronic diarrhea, and progressive neurological deterioration including cerebellar ataxia, spasticity, and dementia. Chenodeoxycholic acid (CDCA) replacement therapy reduces cholestanol levels and can halt or reverse neurological progression when started early.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Cerebrotendinous Xanthomatosis trials.
Plasma cholestanol level is the primary diagnostic and treatment monitoring biomarker
Chenodeoxycholic acid (CDCA) is the standard treatment — trials may study novel bile acid formulations or combination therapies
Brain MRI white matter lesions and cerebellar atrophy are key staging markers
CTX is frequently misdiagnosed as multiple sclerosis or spinocerebellar ataxia — genetic confirmation of CYP27A1 variants is required
Patient Resources
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