Cerebrotendinous Xanthomatosis Latest Advances

Find the Latest Research About Cerebrotendinous Xanthomatosis

Last Updated: 02/24/2026

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Found 879 publications

In cases of cataracts also consider cerebrotendinous xanthomatosis

In cases of cataracts also consider cerebrotendinous xanthomatosis

Journal: Die Ophthalmologie
Published: December 04, 2025

Cerebrotendinous Xanthomatosis: Unraveling Prominent Neuropsychiatric Symptoms and Mild Cognitive Impairment With Subsequent Clinical Improvement.

Cerebrotendinous Xanthomatosis: Unraveling Prominent Neuropsychiatric Symptoms and Mild Cognitive Impairment With Subsequent Clinical Improvement.

Journal: The primary care companion for CNS disorders
Published: November 07, 2025

Reprint of: Spotlight on timely diagnosis and treatment in subtle ataxia and spastic gait: Expert commentary.

Reprint of: Spotlight on timely diagnosis and treatment in subtle ataxia and spastic gait: Expert commentary.

Journal: Parkinsonism & related disorders
Published: November 06, 2025

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Journal: International journal of molecular sciences
Published: October 02, 2025

Pharmacokinetic Cross-Over Study of Pharmacy-Compounded Chenodeoxycholic Acid Capsules Compared to Authorized Capsules.

Pharmacokinetic Cross-Over Study of Pharmacy-Compounded Chenodeoxycholic Acid Capsules Compared to Authorized Capsules.

Journal: Pharmaceutics
Published: September 12, 2025

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy.

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy.

Journal: Health science reports
Published: September 07, 2025

Unmasking Cerebrotendinous Xanthomatosis: Clinical Recognition of a Treatable Cause of Progressive Ataxia.

Unmasking Cerebrotendinous Xanthomatosis: Clinical Recognition of a Treatable Cause of Progressive Ataxia.

Journal: Neurology
Published: August 25, 2025

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

Journal: Cerebellum (London, England)
Published: August 05, 2025

Letter to the editor: Peripheral neuropathy as the isolated initial manifestation of cerebrotendinous xanthomatosis: a diagnostic challenge.

Letter to the editor: Peripheral neuropathy as the isolated initial manifestation of cerebrotendinous xanthomatosis: a diagnostic challenge.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 01, 2025

Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.

Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.

Journal: Cerebellum (London, England)
Published: July 16, 2025

Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report.

Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report.

Journal: Journal of orthopaedic case reports
Published: June 24, 2025

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.

Journal: Neurology international
Published: June 19, 2025
Showing 1-12 of 879

Last Updated: 02/24/2026