Document Detail


Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis.
MedLine Citation:
PMID:  21345536     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
INTRODUCTION: cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by a deficiency of mitochondrial enzyme sterol 27-hydrolylase. Such a deficiency results in a reduced production of chenodeoxycholic acid and in an increased formation of cholestanol. It is clinically characterized by cataracts, diarrhoea, xanthomas, premature arteriosclerosis and a number of progressive neurological symptoms. Although cholestanol levels are used for the diagnosis of CTX, their correlation with the clinical symptoms and their prognostic usefulness have not been assessed so far. METHODS: we reviewed 14 CTX patients diagnosed between 1995 and 2008 in two reference centres for the genetic diagnosis of this disorder, whose cholestanol levels had been recorded. We studied the main demographic, clinical and therapeutical data and their correlation with plasma cholestanol levels. RESULTS: the average cholestanol level at diagnosis was 105.8μmol/l. These levels did not correlate with any neurological symptoms or with disability at diagnosis scored by the EDSS. After treatment, all patients achieved a significant reduction in plasma cholestanol levels (average reduction of 91μmol/l in an average follow-up of 34 months), although only one patient remained clinically stable. CONCLUSIONS: high cholestanol levels are very useful for diagnosis of CTX but they do not have a prognostic value (they do not correlate with severity). Normalisation of cholestanol levels is not always associated with clinical stabilisation. However, follow-up of cholestanol levels can be useful for the dose adjustment.
Authors:
B Pilo de la Fuente; M J Sobrido; M Girós; L Pozo; M Lustres; F Barrero; J Macarrón; M Díaz; A Jiménez-Escrig
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-21
Journal Detail:
Title:  Neurologia (Barcelona, Spain)     Volume:  -     ISSN:  0213-4853     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9005460     Medline TA:  Neurologia     Country:  -    
Other Details:
Languages:  ENG; SPA     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2010 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.
Affiliation:
Sección de Neurología, Hospital del Sureste, Arganda del Rey, Madrid, España.
Vernacular Title:
Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa.
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