ArticleOrphanet journal of rare diseases2019
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Delayed diagnosis of cerebrotendinous xanthomatosis with progressive neurological involvement: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches.Neurogenetics · 2026Article
- Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.Cerebellum (London, England) · 2026Review
- Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis.Frontiers in neurology · 2025Article
- Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.Orphanet journal of rare diseases · 2024Article
- Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report.World journal of psychiatry · 2023Article
- Chronic oligodendrocyte injury in central nervous system pathologies.Communications biology · 2022Review
- Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report.World journal of clinical cases · 2022Article
- Features of the metabolic syndrome and subclinical atherosclerosis in patients with cerebrotendinous xanthomatosis: An augmented risk for premature cardiovascular disease.Frontiers in genetics · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.World journal of clinical cases · 2020Article
- Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.Annals of translational medicine · 2020Article
- c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.Frontiers in genetics · 2020Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have been reported in the Chinese population.
resultsThree novel likely pathogenic mutations (c.368_374delCCAGTAC, c.389 T > A and c.571C > T) and 7 previously reported pathogenic mutations (c.379C > T, c.435G > T, c.1016C > T, c.1214G > A, c.1263 + 1G > A, c.1420C > T and c.1435C > T) were identified. In addition, we summarized the genotypes and phenotypes of reported Chinese CTX patients. The most predominant mutations in CYP27A1 were c.410G > A and c.379C > T, and the most common clinical manifestations were pyramidal signs, xanthomatosis, cerebellar ataxia, and cognitive impairment.
conclusionOur study broadens the genetic and clinical spectrum of CTX and provides insightful information to help better diagnose and understand the disease.
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