Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
Brain. 2008-03-31; 131(5): 1352-1361
DOI: 10.1093/brain/awn059
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1. Brain. 2008 May;131(Pt 5):1352-61. doi: 10.1093/brain/awn059. Epub 2008 Mar 31.
Composite cerebellar functional severity score: validation of a quantitative
score of cerebellar impairment.
du Montcel ST(1), Charles P, Ribai P, Goizet C, Le Bayon A, Labauge P,
Guyant-Maréchal L, Forlani S, Jauffret C, Vandenberghe N, N’guyen K, Le Ber I,
Devos D, Vincitorio CM, Manto MU, Tison F, Hannequin D, Ruberg M, Brice A, Durr
A.
Author information:
(1)AP-HP, Department of Biostatistics and Medical Informatics, Pitié-Salpêtrière
Charles-Foix Clinical Research Unit, University Pierre et Marie Curie, Paris,
France.
Reliable and easy to perform functional scales are a prerequisite for future
therapeutic trials in cerebellar ataxias. In order to assess the specificity of
quantitative functional tests of cerebellar dysfunction, we investigated 123
controls, 141 patients with an autosomal dominant cerebellar ataxia (ADCA) and 53
patients with autosomal dominant spastic paraplegia (ADSP). We evaluated four
different functional tests (nine-hole pegboard, click, tapping and writing
tests), in correlation with the scale for the assessment and rating of cerebellar
ataxia (SARA), the scale of functional disability on daily activities (part IV of
the Huntington disease rating scale), depression (the Public Health Questionnaire
PHQ-9) and the EQ-5D visual analogue scale for self-evaluation of health status.
There was a significant correlation between each functional test and a lower limb
score. The performance of controls on the functional tests was significantly
correlated with age. Subsequent analyses were therefore adjusted for this factor.
The performances of ADCA patients on the different tests were significantly worse
than that of controls and ADSP patients; there was no difference between ADSP
patients and controls. Linear regression analysis showed that only two
independent tests, the nine-hole pegboard and the click test on the dominant side
(P < 0.0001), accounted for the severity of the cerebellar syndrome as reflected
by the SARA scores, and could be represented by a composite cerebellar functional
severity (CCFS) score calculated as follows: [Formula: see text]. The CCFS score
was significantly higher in ADCA patients compared to controls (1.12 +/- 0.18
versus 0.85 +/- 0.05, P(c) < 0.0001) and ADSP patients (1.12 +/- 0.18 versus 0.90
+/- 0.08, P(c) < 0.0001) and was correlated with disease duration (P < 0.0001)
but independent of self-evaluated depressive mood in ADCA. Among genetically
homogeneous subgroups of ADCA patients (Spinocerebellar ataxia 1, 2, 3), SCA3
patients had significantly lower (better) CCFS scores than SCA2 (P(c) < 0.04) and
the same tendency was observed in SCA1. Their CCFS scores remained significantly
worse than those of ADSP patients with identified SPG4 mutations (P < 0.0001).
The pegboard and click tests are easy to perform and accurately reflect the
severity of the disease. The CCFS is a simple and validated method for assessing
cerebellar ataxia over a wide range of severity, and will be particularly useful
for discriminating paucisymptomatic carriers from affected patients and for
evaluating disease progression in future therapeutic trials.
DOI: 10.1093/brain/awn059
PMID: 18378516 [Indexed for MEDLINE]