Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants

J Child Neurol. 2012 Sep;27(9):1152-8. doi: 10.1177/0883073812448462. Epub 2012 Jun 29.


Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia, dysarthria, and areflexia. The authors report the progress of a large international noninterventional cohort (n = 410), tracking the natural history of disease progression using the neurologic examination-based Friedreich Ataxia Rating Scale. The authors analyzed the rate of progression with cross-sectional analysis and longitudinal analysis over a 2-year period. The Friedreich Ataxia Rating Scale captured disease progression when used at 1 and 2 years following initial evaluation, with a lower ratio of standard deviation of change to mean change over 2 years of evaluation. However, modeling of disease progression identified substantial ceiling effects in the Friedreich Ataxia Rating Scale, suggesting this measure is most useful in subjects before maximal deficit is approached.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Cohort Studies
  • Cross-Sectional Studies
  • Disease Progression
  • Female
  • Friedreich Ataxia / complications
  • Friedreich Ataxia / diagnosis*
  • Friedreich Ataxia / genetics
  • Friedreich Ataxia / therapy*
  • Humans
  • Iron-Binding Proteins / genetics
  • Male
  • Neurologic Examination
  • Outcome Assessment, Health Care
  • Point Mutation / genetics
  • Retrospective Studies
  • Severity of Illness Index
  • Trinucleotide Repeat Expansion / genetics


  • Iron-Binding Proteins
  • frataxin