A mentally retarded woman with tendon xanthomata and normal serum cholesterol concentration was found to have raised cholestanol concentrations in the serum and in a xanthoma. This confirmed the diagnosis of cerebrotendinous xanthomatosis (CBX). No specific lipoprotein fraction was found to transport cholestanol. For the first time cultured fibroblasts from a patient with CBX were found to accumulate cholestanol.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/BF01799999 | DOI Listing |
Mol Genet Metab
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:
Cerebrotendinous Xanthomatosis (CTX) is a treatable, inborn error of bile acids metabolism caused by pathogenic variants in CYP27A1. CTX is a multi-organ system disorder that progresses over decades. Clinical features include cerebellar dysfunction, pyramidal tract dysfunction, cognitive deficits and decline, peripheral neuropathy, chronic diarrhea, bilateral cataracts, and tendon xanthomas.
View Article and Find Full Text PDFJ Mov Disord
January 2025
Department of Neurology, Changhua Christian Hospital, Changhua, Taiwan.
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.
Eur J Neurol
January 2025
Brain and Mind Centre, University of Sydney, Camperdown, New South Wales, Australia.
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 PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!