Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 559-565 |
| Number of pages | 7 |
| Journal | Journal of Neurology, Neurosurgery and Psychiatry |
| Volume | 89 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 1 2018 |
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ASJC Scopus subject areas
- Surgery
- Clinical Neurology
- Psychiatry and Mental health
Cite this
Friedreich and dominant ataxias : Quantitative differences in cerebellar dysfunction measurements. / Melac, Audrey Tanguy; Mariotti, Caterina; Pierucci, Antoine Filipovic; Giunti, Paola; Arpa, Javier; Boesch, Sylvia; Klopstock, Thomas; Vom Hagen, Jennifer Müller; Klockgether, Thomas; Bürk, Katrin; Schulz, Jörg B.; Reetz, Kathrin; Pandolfo, Massimo; Durr, Alexandra; Du Montcel, Sophie Tezenas; Panzeri, M.; Parkinson, M. H.; Sanz-Gallego, I.; Nachbauer, W.; Karin, I.; Depondt, C.; Schoels, L.; Giordano, I.; Nanetti, L.; Castaldo, A.; Eigentler, A.
In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 89, No. 6, 01.06.2018, p. 559-565.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Friedreich and dominant ataxias
T2 - Quantitative differences in cerebellar dysfunction measurements
AU - Melac, Audrey Tanguy
AU - Mariotti, Caterina
AU - Pierucci, Antoine Filipovic
AU - Giunti, Paola
AU - Arpa, Javier
AU - Boesch, Sylvia
AU - Klopstock, Thomas
AU - Vom Hagen, Jennifer Müller
AU - Klockgether, Thomas
AU - Bürk, Katrin
AU - Schulz, Jörg B.
AU - Reetz, Kathrin
AU - Pandolfo, Massimo
AU - Durr, Alexandra
AU - Du Montcel, Sophie Tezenas
AU - Panzeri, M.
AU - Parkinson, M. H.
AU - Sanz-Gallego, I.
AU - Nachbauer, W.
AU - Karin, I.
AU - Depondt, C.
AU - Schoels, L.
AU - Giordano, I.
AU - Nanetti, L.
AU - Castaldo, A.
AU - Eigentler, A.
PY - 2018/6/1
Y1 - 2018/6/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85048296038&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85048296038&partnerID=8YFLogxK
U2 - 10.1136/jnnp-2017-316964
DO - 10.1136/jnnp-2017-316964
M3 - Article
AN - SCOPUS:85048296038
VL - 89
SP - 559
EP - 565
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 6
ER -