Xanthomatosis, Cerebrotendinous
"Xanthomatosis, Cerebrotendinous" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27-hydroxylase. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
MeSH Number(s)
C16.320.565.398.925
C18.452.584.750.975
C18.452.648.398.925
Concept/Terms
Xanthomatosis, Cerebrotendinous- Xanthomatosis, Cerebrotendinous
- Cerebrotendinous Xanthomatoses
- Xanthomatoses, Cerebrotendinous
- Van Bogaert-Scherer-Epstein Disease
- Bogaert-Scherer-Epstein Disease, Van
- Disease, Van Bogaert-Scherer-Epstein
- Van Bogaert Scherer Epstein Disease
- Cerebral Cholesterinosis
- Cerebral Cholesterinoses
- Cerebrotendinous Xanthomatosis
Below are MeSH descriptors whose meaning is more general than "Xanthomatosis, Cerebrotendinous".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Xanthomatosis, Cerebrotendinous [C16.320.565.398.925]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Lipid Metabolism Disorders [C18.452.584]
- Xanthomatosis [C18.452.584.750]
- Xanthomatosis, Cerebrotendinous [C18.452.584.750.975]
- Metabolism, Inborn Errors [C18.452.648]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Xanthomatosis, Cerebrotendinous [C18.452.648.398.925]
Below are MeSH descriptors whose meaning is more specific than "Xanthomatosis, Cerebrotendinous".
This graph shows the total number of publications written about "Xanthomatosis, Cerebrotendinous" by people in Harvard Catalyst Profiles by year, and whether "Xanthomatosis, Cerebrotendinous" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 1 | 0 | 1 |
| 2012 | 0 | 1 | 1 |
| 2013 | 1 | 0 | 1 |
| 2018 | 2 | 1 | 3 |
| 2023 | 2 | 0 | 2 |
| 2024 | 1 | 0 | 1 |
Below are the most recent publications written about "Xanthomatosis, Cerebrotendinous" by people in Profiles.
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Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing. J AAPOS. 2024 Feb; 28(1):103808.
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Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis. J AAPOS. 2023 08; 27(4):208-211.
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Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients. Orphanet J Rare Dis. 2023 04 06; 18(1):72.
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Movement Disorders in Treatable Inborn Errors of Metabolism. Mov Disord. 2019 05; 34(5):598-613.
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Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. J Clin Lipidol. 2018 Sep - Oct; 12(5):1169-1178.
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Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2018 07; 41(4):647-656.
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Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis. Ophthalmology. 2013 May; 120(5):956-60.
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Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One. 2012; 7(4):e35333.
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Teaching neuroimage: cerebrotendinous xanthomatosis. Neurology. 2008 Jul 08; 71(2):e4.
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Rehabilitation of balance in two patients with cerebellar dysfunction. Phys Ther. 1997 May; 77(5):534-52.