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001     861755
005     20210130001017.0
024 7 _ |a 10.1136/jnnp-2017-316964
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024 7 _ |a 0022-3050
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024 7 _ |a 0266-8637
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024 7 _ |a 0368-329X
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024 7 _ |a 1468-330X
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082 _ _ |a 610
100 1 _ |a Tanguy Melac, Audrey
|b 0
245 _ _ |a Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements
260 _ _ |a London
|c 2018
|b BMJ Publishing Group
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520 _ _ |a Background Sensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction.Methods We evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional Severity (CCFS) Scale and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls. We evaluated these scales for different diseases and investigated the factors governing the scores obtained. All patients were recruited prospectively.Results There were 383 patients with Friedreich’s ataxia (FRDA), 205 patients with SCA and 168 controls. In FRDA, 31% of the variance of cerebellar signs with the CCFS and 41% of that with SARA were explained by disease duration, age at onset and the shorter abnormal repeat in the FXN gene. Increases in CCFS and SARA scores per year were lower for FRDA than for SCA (CCFS index: 0.123±0.123 per year vs 0.163±0.179, P<0.001; SARA index: 1.5±1.2 vs 1.7±1.7, P<0.001), indicating slower cerebellar dysfunction indexes for FRDA than for SCA. Patients with SCA2 had higher CCFS scores than patients with SCA1 and SCA3, but similar SARA scores.Conclusions Cerebellar dysfunction, as measured with the CCFS and SARA scales, was more severe in FRDA than in patients with SCA, but with lower progression indexes, within the limits of these types of indexes. Ceiling effects may occur at late stages, for both scales. The CCFS scale is rater-independent and could be used in a multicentre context, as it is simple, rapid and fully automated.
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700 1 _ |a Mariotti, Caterina
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700 1 _ |a Filipovic Pierucci, Antoine
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700 1 _ |a Giunti, Paola
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700 1 _ |a Arpa, Javier
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700 1 _ |a Boesch, Sylvia
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700 1 _ |a Klopstock, Thomas
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700 1 _ |a Müller vom Hagen, Jennifer
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700 1 _ |a Klockgether, Thomas
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700 1 _ |a Bürk, Katrin
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700 1 _ |a Schulz, Jörg B
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700 1 _ |a Reetz, Kathrin
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700 1 _ |a Pandolfo, Massimo
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700 1 _ |a Durr, Alexandra
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700 1 _ |a Tezenas du Montcel, Sophie
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|e Corresponding author
773 _ _ |a 10.1136/jnnp-2017-316964
|g Vol. 89, no. 6, p. 559 - 565
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|t Journal of neurology, neurosurgery, and psychiatry
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|y 2018
|x 1468-330X
856 4 _ |y Published on 2017-12-26. Available in OpenAccess from 2019-06-26.
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856 4 _ |y Published on 2017-12-26. Available in OpenAccess from 2019-06-26.
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