ArticleMolecular syndromology2025
Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study.
Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye.Molecular genetics and metabolism reports · 2026Article
- Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches.Neurogenetics · 2026Article
- Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.Metabolic brain disease · 2026Article
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4 authors.
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Abstract
Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive congenital metabolic disorder, which is characterized by the impairment of the enzymatic activity of sterol 27-hydroxylase. CTX, a rare neurodegenerative disease of sterol metabolism, can affect multiple systems, including the nervous system. It has been demonstrated that many congenital metabolic diseases like CTX are associated with autism spectrum disorder (ASD). The aim of this study was to identify the prevalence of CTX disease in patients with ASD. Method: The clinical conditions of all patients were evaluated using the Mignarri Scoring Index. A sociodemographic form and Gilliam Autism Rating Scale-2 were applied to all participants. Results: In total, 101 children and adolescents with ASD were analyzed for genes. Following genetic analyses, 4 patients with mutations in the Conclusion: Psychiatric manifestations ranging from personality changes to behavioral disorders might accompany CTX. Better understanding and knowledge of the CTX disease by distinguishing specific psychiatric and systemic symptoms might help prevent missed diagnoses, progressive neurological deterioration, and permanent disability through early initiation of chenodeoxycholic acid treatment.
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