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Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman with Cervical Dystonia.
J Mov Disord
January 2025
Department of Neurology, Changhua Christian Hospital, Changhua, Taiwan.
A case report of Cerebrotendinous Xanthomatosis: Progressive gait difficulties and juvenile cataracts in a 33-year-old male.
Parkinsonism Relat Disord
January 2025
Department of Medicine (Neurology), University of Alberta, Edmonton, Alberta, Canada; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.
Eur J Neurol
January 2025
Brain and Mind Centre, University of Sydney, Camperdown, New South Wales, Australia.
Article Synopsis
- CTX (cerebrotendinous xanthomatosis) is a rare genetic lipid storage disease that can be difficult to diagnose due to its varied symptoms, often leading to confusion with other conditions like hereditary spastic paraplegia (HSP).
- A case study of a 53-year-old woman showed a 25-year history of spastic paraparesis and, after years of undiagnosed progression, she was finally diagnosed with CTX through genetic testing revealing a variant in the CYP27A1 gene.
- The patient's treatment included chenodeoxycholic acid, which stabilized her condition, but the advanced state of her disease limited improvement, highlighting the need for thorough investigation and awareness of CTX
Cerebrotendinous xanthomatosis: a literature review and case study.
Front Cardiovasc Med
December 2024
Department of Cardiology, INSERM UMR 1295, Toulouse University Hospital, Toulouse, France.
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX. Early diagnosis is essential to improve patient outcomes.
View Article and Find Full Text PDFThe clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.
Orphanet J Rare Dis
December 2024
Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.
Background: Bile acid synthesis defects (BASDs) can be severely disabling involving the liver and nervous system, potentially due to elevated levels of toxic C-bile acid intermediates. Cholic acid (CA) supplementation is hypothesized to decrease bile acid production, stimulate bile secretion and -flow, and slowing down disease progression. This systematic review assesses the clinical and biochemical effectiveness, and safety of CA in BASDs patients.
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