In:
Orvosi Hetilap, Akademiai Kiado Zrt., Vol. 155, No. 21 ( 2014-05), p. 811-816
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. Orv. Hetil., 2014, 155(21), 811–816.
Type of Medium:
Online Resource
ISSN:
0030-6002
,
1788-6120
DOI:
10.1556/OH.2014.29887
Language:
Hungarian
Publisher:
Akademiai Kiado Zrt.
Publication Date:
2014
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