Associated Papers
Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.
Du K et al.
Cerebellum (london, England), 2026
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
Cerebrotendinous xanthomatosis: a literature review and case study.
Matta A et al.
Frontiers in Cardiovascular Medicine, 2024
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia.
Chun MY et al.
Frontiers in Neurology, 2023
c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.
Jiang J et al.
Frontiers in Genetics, 2020
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Tao QQ et al.
Orphanet Journal of Rare Diseases, 2019
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Jacinto-Scudeiro LA et al.
Frontiers in Neurology, 2019
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
Abdel-Hamid MS et al.
Metabolic Brain Disease, 2017
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.
Di Taranto MD et al.
Metabolic Brain Disease, 2016
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
Appadurai V et al.
Molecular Genetics and Metabolism, 2015
Look carefully to the heels! A potentially treatable cause of spastic paraplegia.
Saute JA et al.
Journal of Inherited Metabolic Disease, 2015
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis.
Mignarri A et al.
Parkinsonism & Related Disorders, 2012
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
Gallus GN et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.
Guyant-Maréchal L et al.
American Journal of Medical Genetics. Part A, 2005