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

Sean R. Regner, Nicholas S. Wilcox, Lisa S. Friedman, Lauren A. Seyer, Kim A. Schadt, Karlla W. Brigatti, Susan Perlman, Martin Delatycki, George R. Wilmot, Christopher M. Gomez, Khalaf O. Bushara, Katherine D. Mathews, S. H. Subramony, Tetsuo Ashizawa, Bernard Ravina, Alicia Brocht, Jennifer M. Farmer, David R. Lynch

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1152-1158
Number of pages7
JournalJournal of Child Neurology
Issue number9
StatePublished - Sep 2012


  • Friedreich ataxia
  • natural history study
  • noninterventional study

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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