title: Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity.
abstract: BACKGROUND
  The objective of the study was to evaluate the sensitivity to change of the Scale for the Assessment and Rating of Ataxia (score, 0-40) in Friedreich's ataxia.
  
  
  METHODS
  This was a follow-up study in adult patients with genetically confirmed Friedreich's ataxia evaluated at least twice (minimum interval, 6 months). Participants were outpatients at the Center for Neurogenetics of the Pitie-Salpêtrière Hospital in Paris.
  
  
  RESULTS
  We included 84 patients; 60% had 3 or more evaluations. The mean score on first assessment was 22.7 ± 9, and the mean follow-up was 1.84 ± 1.10 years. The mean increase was 1.36 ± 2.3 points/year; this variation was not significantly linked to factors known to influence disease severity such as age at onset, disease duration, GAA expansion length, and wheelchair use.
  
  
  CONCLUSIONS
  In adult Friedreich's ataxia patients the Scale for the Assessment and Rating of Ataxia can detect annual changes independently of disease severity. In future therapeutic trials no patient stratification is globally required.
authors.affiliation: Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle epiniere, UMR-S975, Paris, France.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Marelli
authors.forename: Julie
authors.initials: J
authors.lastname: Figoni
authors.forename: Perrine
authors.initials: P
authors.lastname: Charles
authors.forename: Mathieu
authors.initials: M
authors.lastname: Anheim
authors.forename: Maya
authors.initials: M
authors.lastname: Tchikviladze
authors.forename: Carlo-Maria
authors.initials: CM
authors.lastname: Vincitorio
authors.forename: Sophie Tezenas
authors.initials: ST
authors.lastname: du Montcel
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Jean Louis
authors.initials: JL
authors.lastname: Golmard
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dürr
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004185:Disability Evaluation; D005260:Female; D005500:Follow-Up Studies; D005621:Friedreich Ataxia / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D055815:Young Adult