Egy ritka, veleszületett neurodegeneratív betegség: A cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája

Translated title of the contribution: Laboratory diagnosis of a rare congenital neurodegenerative disease: Cerebrotendinous xanthomatosis

Viktória Evelin Varga, Mónika Katkó, János Harangi, István Balogh, István Kapás, László Madar, Ildikó Seres, Mária Judit Molnár, György Paragh, G. Gábor Kovács, Mariann Harangi

Research output: Contribution to journalArticle

Abstract

Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved in bile acid synthesis. The diagnosis is often missed and delayed because of the variable clinical presentation of the disease. Blood testing for cerebrotendinous xanthomatosis is routinely performed using gas chromatography-mass spectrometry measurement of elevated cholestanol level, and the diagnosis is confirmed by molecular genetic analysis. Early recognition and initiation of chenodeoxycholic acid therapy with hydoxymethyl "glutaryl" Coenzyme-A reductase inhibitors is critical to prevent irreversible neurological damage and permanent disability. The authors summarize the current knowledge about the pathomechanism, laboratory diagnosis and therapeutic options of cerebrotendinous xanthomatosis.

Translated title of the contributionLaboratory diagnosis of a rare congenital neurodegenerative disease: Cerebrotendinous xanthomatosis
Original languageHungarian
Pages (from-to)811-816
Number of pages6
JournalOrvosi hetilap
Volume155
Issue number21
DOIs
Publication statusPublished - May 1 2014

ASJC Scopus subject areas

  • Medicine(all)

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