Abstract |
Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia of all four limbs, dysarthria, and arreflexia. A variety of measures are currently used to quantify disease progression, including the Friedreich Ataxia Rating Scale, examiner-rated functional disability scales, self-reported activities of daily living and performance measures such as the timed 25-foot walk, 9-hole pegboard test, PATA speech test, and low-contrast letter acuity vision charts. This study examines the rate of disease progression over one and two years in a cohort of 236 Friedreich ataxia patients using these scales and performance measure composites. The Friedreich Ataxia Rating Scale and performance-measure composites captured disease progression, with a greater sensitivity to change over 2 years than over 1 year. The measures differed in their sensitivity to change and in possible bias. These results help to establish norms for progression in FRDA that can be useful in measuring the long-term success of therapeutic agents and defining sample-size calculations for double-blind clinical trials.
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Authors | Lisa S Friedman, Jennifer M Farmer, Susan Perlman, George Wilmot, Christopher M Gomez, Khalaf O Bushara, Katherine D Mathews, S H Subramony, Tetsuo Ashizawa, Laura J Balcer, Robert B Wilson, David R Lynch |
Journal | Movement disorders : official journal of the Movement Disorder Society
(Mov Disord)
Vol. 25
Issue 4
Pg. 426-32
(Mar 15 2010)
ISSN: 1531-8257 [Electronic] United States |
PMID | 20063431
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Mitochondrial
- Iron-Binding Proteins
- frataxin
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Topics |
- Activities of Daily Living
- Adult
- Aged
- Clinical Trials as Topic
- DNA, Mitochondrial
(genetics)
- Disease Progression
- Double-Blind Method
- Female
- Friedreich Ataxia
(diagnosis, genetics, physiopathology)
- Humans
- Iron-Binding Proteins
(genetics)
- Male
- Middle Aged
- Neurologic Examination
- Point Mutation
(genetics)
- Severity of Illness Index
- Speech Disorders
(diagnosis)
- Trinucleotide Repeats
(genetics)
- Walking
- Young Adult
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