title: Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia.
abstract: BACKGROUND
  Cerebrotendinous xanthomatosis is an infrequent cause of dementia. It is an autosomal recessive disorder with clinical and molecular heterogeneity.
  
  
  OBJECTIVE
  To identify the presence of a possible mutation in a Colombian family with several affected siblings and clinical characteristics compatible with cerebrotendinous xanthomatosis associated to early dementia.
  
  
  METHODS
  We studied a series of cases with longitudinal follow-up and genetic analysis.
  
  
  RESULTS
  These individuals had xanthomas, mental retardation, psychiatric disorders, behavioral changes, and multiple domains cognitive impairment with dysexecutive dominance that progressed to early dementia. CYP27A1 gene coding region sequencing revealed a novel mutation (c.1183_1184insT).
  
  
  CONCLUSIONS
  The mutation found in this family is responsible for the described dementia features. Early identification of familial history with mental retardation, xanthomas and cognitive impairment might prevent the progression to this treatable type of dementia. Even though this mutation lies in the most frequently mutated codon of CYP27A1 gene, it has not been reported previously.
authors: Grupo de Neurociencias de Antioquia, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
authors: Margarita
authors: M
authors: Giraldo-Chica
authors: Grupo de Neurociencias de Antioquia, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
authors: Natalia
authors: N
authors: Acosta-Baena
authors: Grupo de Mapeo Genético, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
authors: Lorena
authors: L
authors: Urbano
authors: Grupo de Neurociencias de Antioquia, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
authors: Lina
authors: L
authors: Velilla
authors: Grupo de Neurociencias de Antioquia, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
authors: Francisco
authors: F
authors: Lopera
authors: Grupo de Mapeo Genético, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
authors: Nicolás
authors: N
authors: Pineda
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002675:Child, Preschool; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D003105:Colombia; D003704:Dementia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D059906:Neuroimaging; D009483:Neuropsychological Tests; D020734:Parkinsonian Disorders / Q000235:genetics; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000000981:diagnostic imaging / Q000235:genetics* / Q000523:psychology
chemical_list: D022821:RNA Splice Sites; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase