Article
Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches.
Neurogenetics - 18 Apr 2026
Ďurina Pavol, Bandura Andrej, Chandoga Ján, Juhosová Miriama, Repiský Marcel, Jungová Petra, Roháľová Jana, Jarásková Dominika, Pohorelská Viktória, Dallemule Silvia, Mattošová Slavomíra, Brennerová Katarína, Okaľová Katarína, Bohuniczky Imre, Böhmer Daniel
Abstract excerpt
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in CYP27A1. The disease is characterized by progressive neurological impairment, cataracts, and tendon xanthomas and is biochemically defined by the accumulation of cholestanol, cholesterol precursors, and bile alcohols. We report the first Slovak cohort of eight CTX patients diagnosed...
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