Literature DB >> 2006015

Cerebrotendinous xanthomatosis: treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings.

J Peynet1, A Laurent, P De Liege, P Lecoz, P Gambert, A Legrand, J Mikol, A Warnet.   

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.

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Year:  1991        PMID: 2006015     DOI: 10.1212/wnl.41.3.434

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  6 in total

1.  Cerebellar Ataxia.

Authors: 
Journal:  Curr Treat Options Neurol       Date:  2000-05       Impact factor: 3.598

2.  Paediatric cerebrotendinous xanthomatosis.

Authors:  R A Wevers; J R Cruysberg; A F Van Heijst; F S Janssen-Zijlstra; W O Renier; B G Van Engelen; J J Tolboom
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  Cerebrotendinous xanthomatosis: an early diagnosis by biochemical tests.

Authors:  Muralidar Laxmanrao Kulkarni; M S Sreedhara; Sanjana Kalvehalli Kashinath; Akhil Muralidhar Kulkarni
Journal:  Indian J Pediatr       Date:  2014-02-21       Impact factor: 1.967

4.  Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report.

Authors:  H R Siebner; S Berndt; B Conrad
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-05       Impact factor: 10.154

5.  Nationwide survey on cerebrotendinous xanthomatosis in Japan.

Authors:  Yoshiki Sekijima; Shingo Koyama; Tsuneaki Yoshinaga; Masayoshi Koinuma; Yuji Inaba
Journal:  J Hum Genet       Date:  2018-01-10       Impact factor: 3.172

Review 6.  Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).

Authors:  Gerald Salen; Robert D Steiner
Journal:  J Inherit Metab Dis       Date:  2017-10-04       Impact factor: 4.982

  6 in total

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