Journal article
Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants
Journal of child neurology, Vol.27(9), pp.1152-1158
09/2012
DOI: 10.1177/0883073812448462
PMCID: PMC3674496
PMID: 22752494
Abstract
Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia, dysarthria, and areflexia. We report the progress of a large international non-interventional cohort (n = 410), tracking the natural history of disease progression using the neurological exam-based Friedreich Ataxia Rating Scale. We 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 patients before maximal deficit is approached.
Details
- Title: Subtitle
- Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants
- Creators
- Sean R Regner - Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PennsylvaniaNicholas Wilcox - Children’s Hospital of Philadelphia, Philadelphia, PennsylvaniaLisa S Friedman - Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PennsylvaniaLauren Seyer - Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PennsylvaniaKim Schadt - Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PennsylvaniaKarlla W Brigatti - Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PennsylvaniaSusan Perlman - Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CaliforniaMartin Delatycki - Murdoch Children’s Research Institute, Melbourne, Victoria, AustraliaGeorge R Wilmot - Department of Neurology, Emory University, Atlanta, GeorgiaChristopher M Gomez - Department of Neurology, University of Chicago, Chicago, IllinoisKhalaf O Bushara - Department of Neurology, University of Minnesota, Minneapolis, MinnesotaKatherine D Mathews - Departments of Neurology and Pediatrics, University of Iowa, Iowa City, IowaS.H Subramony - Department of Neurology, University of Florida, Gainesville, FloridaTetsuo Ashizawa - Department of Neurology, University of Florida, Gainesville, FloridaBernard Ravina - Department of Neurology, University of Rochester, Rochester, New YorkAlicia Brocht - Department of Neurology, University of Rochester, Rochester, New YorkJennifer M Farmer - Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PennsylvaniaDavid R Lynch - Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
- Resource Type
- Journal article
- Publication Details
- Journal of child neurology, Vol.27(9), pp.1152-1158
- DOI
- 10.1177/0883073812448462
- PMID
- 22752494
- PMCID
- PMC3674496
- NLM abbreviation
- J Child Neurol
- ISSN
- 0883-0738
- eISSN
- 1708-8283
- Language
- English
- Date published
- 09/2012
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984013918002771
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