[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].

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.

• Authors: 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
• Journal: Orvosi hetilap (Orv Hetil) Vol. 155 Issue 21 Pg. 811-6 (May 25 2014) ISSN: 0030-6002 [Print] Hungary
• Vernacular Title: Egy ritka, veleszületett neurodegeneratív betegség: a cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája.
• PMID: 24836315 (Publication Type: Journal Article, Review)

Chemical References

• Chenodeoxycholic Acid
• Cholestanol
• Cholesterol
• CYP27A1 protein, human
• Cholestanetriol 26-Monooxygenase

Topics

• Brain (metabolism)
• Chenodeoxycholic Acid (therapeutic use)
• Cholestanetriol 26-Monooxygenase (genetics)
• Cholestanol (blood, metabolism)
• Cholesterol (blood, metabolism)
• Clinical Laboratory Techniques
• Early Diagnosis
• Gas Chromatography-Mass Spectrometry
• Gene Expression Regulation, Enzymologic
• Genetic Testing (economics)
• Global Health
• Humans
• Hungary (epidemiology)
• Infant, Newborn
• Neonatal Screening
• Rare Diseases
• Tendons (metabolism)
• Xanthomatosis, Cerebrotendinous (diagnosis, drug therapy, enzymology, genetics, metabolism, physiopathology)