title: [Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers].
abstract: OBJECTIVE
  It has been estimated that 1:1233 males and 1:411 females are FMR1 premutated carriers. This gene is responsible for the fragile X syndrome.
  
  
  METHODS
  Among 398 fragile X syndrome families, we evaluated 112 premutated carriers older than 50 year.
  
  
  RESULTS
  FXTAS penetrance among fragile X families was 10.7% for female premutated carriers and 29.7% for male premutated carriers. In the general population, it was estimated that 1:4,000 females and 1:5,000 males will develop the FXTAS syndrome.
  
  
  CONCLUSIONS
  Besides the risk for fragile X syndrome, the genetic counseling in premutation carriers should mention the risk for FXTAS. This syndrome should also be taken into account among spinocerebelar ataxia patients with an unknown etiology.
authors.affiliation: Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Barcelona, España. mmila@clinic.ub.es
authors.forename: Montserrat
authors.initials: M
authors.lastname: Milà
authors.forename: Irene
authors.initials: I
authors.lastname: Madrigal
authors.forename: Jaime
authors.initials: J
authors.lastname: Kulisevsky
authors.forename: Javier
authors.initials: J
authors.lastname: Pagonabarraga
authors.forename: Beatriz
authors.initials: B
authors.lastname: Gómez
authors.forename: Aurora
authors.initials: A
authors.lastname: Sánchez
authors.forename: Laia
authors.initials: L
authors.lastname: Rodríguez-Revenga
mesh_terms: D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019683:Penetrance; D020754:Spinocerebellar Ataxias / Q000235:genetics*