Abstract | INTRODUCTION: 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 105.8 μmol/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 91 μmol/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.
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Authors | B Pilo de la Fuente, M J Sobrido, M Girós, L Pozo, M Lustres, F Barrero, J Macarrón, M Díaz, A Jiménez-Escrig |
Journal | Neurologia (Barcelona, Spain)
(Neurologia)
Vol. 26
Issue 7
Pg. 397-404
(Sep 2011)
ISSN: 0213-4853 [Print] Spain |
Vernacular Title | Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa. |
PMID | 21345536
(Publication Type: English Abstract, Journal Article)
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Copyright | 2010 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved. |
Chemical References |
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Topics |
- Adolescent
- Adult
- Age of Onset
- Child
- Cholestanol
(blood)
- Disease Progression
- Humans
- Male
- Prognosis
- Retrospective Studies
- Severity of Illness Index
- Xanthomatosis, Cerebrotendinous
(blood, diagnosis, genetics, physiopathology)
- Young Adult
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