A recent study aimed to analyze the progress and trends in research on cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive disease related to lipid metabolism, over the past 30 years. A total of 561 publications on CTX were analyzed from the Web of Science Core Collection database. Using techniques like keyword clustering and burst detection analysis, researchers pinpointed 3 main hotspots: pathogenesis, diagnosis, and treatment.
Pathogenesis:
- CTX is caused by mutations in the CYP27A1 gene, impairing sterol 27-hydroxylase, crucial for bile acid synthesis.
- This leads to metabolic disruptions, including increased bile acid intermediates and a loss of feedback control in cholesterol metabolism.
Diagnosis:
- Diagnostic tools include clinical assessments, biochemical tests, and genetic evaluations, with neuroimaging (T2-weighted/FLAIR) showing abnormalities in cerebellar white matter.
- Early diagnosis is essential to prevent neurological decline, but delayed diagnosis is common.
- New criteria suggest elevated serum cholestanol levels and the presence of CTX symptoms as critical markers.
- Cataracts are among the earliest and most consistent symptoms of CTX, often appearing before neurological issues. Early detection of cataracts, especially in young patients, can lead to timely diagnosis of CTX and improve treatment outcomes.
Treatment:
- Chenodeoxycholic acid (CDCA) therapy is the most effective treatment, reducing cholestanol accumulation by inhibiting bile acid production.
- Long-term studies confirm the safety and efficacy of CDCA in managing CTX.
The study concludes that although significant strides have been made in understanding CTX, challenges in early diagnosis and treatment persist. Future research will likely focus on improving diagnostic tools and therapeutic interventions to address this rare disorder.
Reference
Luo F, Ding Y, Zhang S, et alFrontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023. Sec Neurogenetics. 2024; https://doi.org/10.3389/fneur.2024.1371375
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