title: Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
abstract: 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.
authors: Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
authors: Sean R
authors: SR
authors: Regner
authors: Nicholas S
authors: NS
authors: Wilcox
authors: Lisa S
authors: LS
authors: Friedman
authors: Lauren A
authors: LA
authors: Seyer
authors: Kim A
authors: KA
authors: Schadt
authors: Karlla W
authors: KW
authors: Brigatti
authors: Susan
authors: S
authors: Perlman
authors: Martin
authors: M
authors: Delatycki
authors: George R
authors: GR
authors: Wilmot
authors: Christopher M
authors: CM
authors: Gomez
authors: Khalaf O
authors: KO
authors: Bushara
authors: Katherine D
authors: KD
authors: Mathews
authors: S H
authors: SH
authors: Subramony
authors: Tetsuo
authors: T
authors: Ashizawa
authors: Bernard
authors: B
authors: Ravina
authors: Alicia
authors: A
authors: Brocht
authors: Jennifer M
authors: JM
authors: Farmer
authors: David R
authors: DR
authors: Lynch
mesh_terms: D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D018450:Disease Progression; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics; D008297:Male; D009460:Neurologic Examination; D017063:Outcome Assessment, Health Care; D017354:Point Mutation / Q000235:genetics; D012189:Retrospective Studies; D012720:Severity of Illness Index; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000096923:Frataxin