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1991•NeurologyRequires access

Cerebrotendinous xanthornatosis

Jacqueline Peynet, Annie Laurent, P. De Liege, Patrick Lecoz, P Gambert, A. Legrand, Joanne Mikol, A Warnet

Open publisher page 51 citations

Abstract

We report 3 sisters treated for cerebrotendinous xanthomatosis. We treated one, with a severe neurologic form of the illness, with chenodeoxycholic acid, then lovastatin and simvastatin. These drugs had different efficacy and tolerance, but induced no clinical improvement. Her sisters, without neurologic symptoms, received chenodeoxycholic acid, which normalized the cholestanol level. Optimal treatment of this illness must begin before there is significant clinical symptomatology.

About this research paper

What this paper is about

We report 3 sisters treated for cerebrotendinous xanthomatosis. We treated one, with a severe neurologic form of the illness, with chenodeoxycholic acid, then lovastatin and simvastatin. These drugs had different efficacy and tolerance, but induced no clinical improvement. Her sisters, without neurologic symptoms, received chenodeoxycholic acid, which normalized the cholestanol level. Optimal treatment of this illness must begin before there is significant clinical symptomatology.

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OpenAlex reports 51 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

We report 3 sisters treated for cerebrotendinous xanthomatosis. We treated one, with a severe neurologic form of the illness, with chenodeoxycholic acid, then lovastatin and simvastatin. These drugs had different efficacy and tolerance, but induced no clinical improvement. Her sisters, without neurologic symptoms, received chenodeoxycholic acid, which normalized the cholestanol level. Optimal treatment of this illness must begin before there is significant clinical symptomatology.

Key concepts: Cerebrotendinous Xanthomatosis, Chenodeoxycholic acid, Cholestanol, Lovastatin, Medicine, Simvastatin, Internal medicine, Pediatrics

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