Results 21 to 30 of about 3,665 (213)
Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report. [PDF]
Front Neurol, 2023 Rich AM +4 more
europepmc +3 more sources
Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy. [PDF]
Orphanet J Rare DisPasternack G, Courtney J, Kalsi G.
europepmc +3 more sources
Cerebrotendinous xanthomatosis [PDF]
Neurology, 2006 Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by a mutation in the sterol 27-hydroxylase (CYP27) gene1,2. It is important that orthopaedic surgeons be aware of this condition because the initial presentation may be symmetric, painful enlargement and deformity of the Achilles tendons.
Ludger, Schöls +3 more
+5 more sources
Cerebrotendinous Xanthomatosis: A Rare Etiology of the "Hot-Cross Bun" Sign. [PDF]
Ann Indian Acad Neurol, 2023 Rani D, Singla D, Garg D.
europepmc +2 more sources
Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time [PDF]
Indian Dermatology Online JournalParag Suresh +3 more
doaj +2 more sources
Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment. [PDF]
Clin GenetCerebrotendinous xanthomatosis is due to biallelic pathogenic variants in CYP27A1. We report a new patient and his good neurocognitive outcome on the chenodeoxycholic acid treatment despite therapy starting at the age of 34 years. This highlights the importance of recognizing treatable inherited metabolic diseases at any age.
Sultan R +6 more
europepmc +2 more sources
Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings. [PDF]
Radiol Case RepKhan HG +7 more
europepmc +2 more sources