title: [Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis].
abstract: BACKGROUND
  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 105.8 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.
authors.affiliation: Sección de Neurología, Hospital del Sureste, Arganda del Rey, Madrid, España. bpilodelafuente@yahoo.es
authors.forename: B
authors.initials: B
authors.lastname: Pilo de la Fuente
authors.forename: M J
authors.initials: MJ
authors.lastname: Sobrido
authors.forename: M
authors.initials: M
authors.lastname: Girós
authors.forename: L
authors.initials: L
authors.lastname: Pozo
authors.forename: M
authors.initials: M
authors.lastname: Lustres
authors.forename: F
authors.initials: F
authors.lastname: Barrero
authors.forename: J
authors.initials: J
authors.lastname: Macarrón
authors.forename: M
authors.initials: M
authors.lastname: Díaz
authors.forename: A
authors.initials: A
authors.lastname: Jiménez-Escrig
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D004083:Cholestanol / Q000097:blood*; D018450:Disease Progression; D006801:Humans; D008297:Male; D011379:Prognosis; D012189:Retrospective Studies; D012720:Severity of Illness Index; D019294:Xanthomatosis, Cerebrotendinous / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D055815:Young Adult
chemical_list: D004083:Cholestanol