ArticleBMC neurology2010
Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations.
Article in BMC neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Information Theory Analysis of CTX Shows Consistent Clinical Presentation.Journal of inherited metabolic disease · 2025Pooled it
- Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study.Molecular syndromology · 2025Article
- Case report: Cerebrotendinous xanthomatosis with a novel mutation in theFrontiers in neurology · 2023Article
- Chronic oligodendrocyte injury in central nervous system pathologies.Communications biology · 2022Review
- Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022Review
- Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.Journal of atherosclerosis and thrombosis · 2021Article
- Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.Journal of inherited metabolic disease · 2018Article
- Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.Journal of inherited metabolic disease · 2018Review
- Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.Journal of neurology · 2018Article
- Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.Orphanet journal of rare diseases · 2014Review
- Psychiatric manifestations in cerebrotendinous xanthomatosis.Translational psychiatry · 2013Review
- Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2013Article
- The neuropsychiatry of inborn errors of metabolism.Journal of inherited metabolic disease · 2013Review
- Positive correlation between the degree of visual field defect and optic radiation damage in glaucoma patients.Japanese journal of ophthalmology · 2013Article
- Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis.BMC neurology · 2011Article
Corrections and comments
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Authors and funding
10 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundCerebrotendinous xanthomatosis (CTX) is a rare genetic disorder. Recent studies show that brain damage in CTX patients extends beyond the abnormalities observed on conventional magnetic resonance imaging (MRI). We studied the MRI and 99 mTc-ethyl cysteinate dimer single photon emission computed tomography (SPECT) findings of CTX patients and made a correlation with the neuropsychological presentations.
methodsDiffusion tensor imaging (DTI) and 3D T1-weighted images of five CTX patients were compared with 15 age-matched controls. Voxel-based morphometry (VBM) was use to delineate gray matter (GM) and white matter (WM) volume loss. Fractional anisotropy (FA), mean diffusivity (MD), and eigenvalues derived from DTI were used to detect WM changes and correlate with neuropsychological results. SPECT functional studies were used to correlate with GM changes.
resultsCognitive results showed that aside from moderate mental retardation, the patient group performed worse in all cognitive domains. Despite the extensive GM atrophy pattern, the cerebellum, peri-Sylvian regions and parietal-occipital regions were correlated with SPECT results. WM atrophy located in the peri-dentate and left cerebral peduncle areas corresponded with changes in diffusion measures, while axial and radial diffusivity suggested both demyelinating and axonal changes. Changes in FA and MD were preceded by VBM in the corpus callosum and corona radiata. Cognitive results correlated with FA changes.
conclusionIn CTX, GM atrophy affected the perfusion patterns. Changes in WM included atrophy, and axonal changes with demyelination. Disconnection of major fiber tracts among different cortical regions may contribute to cognitive impairment.
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