SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia.
OBJECTIVE
To evaluate the usefulness of functional measures in patients with spinocerebellar ataxia (SCA).


METHODS
We assessed three functional measures-8 m walking time (8MW), 9-hole peg test (9HPT), and PATA repetition rate-in 412 patients with autosomal dominant SCA (genotypes 1, 2, 3, and 6) in a multicenter trial.


RESULTS
While PATA rate was normally distributed (mean/median 21.7/20.5 per 10 s), the performance times for 8MW (mean/median 10.8/7.5 s) or 9HPT (mean/median 47.2/35.0 s in dominant, 52.2/37.9 s in nondominant hand) were markedly skewed. Possible learning effects were small and likely clinically irrelevant. A composite functional index (SCAFI) was formed after appropriate transformation of subtest results. The Z-scores of each subtest correlated well with the Scale for the Assessment and Rating of Ataxia (SARA), the Unified Huntington's disease Rating Scale functional assessment, and disease duration. Correlations for SCAFI with each of these parameters were stronger (Pearson r = -0.441 to -0.869) than for each subtest alone. Furthermore, SCAFI showed a linear decline over the whole range of disease severity, while 9HPT and 8MW had floor effects with respect to SARA. Analysis of possible confounders showed no effect of genotype or study site and only minor effects of age for 8MW.


CONCLUSIONS
The proposed functional measures and their composite SCAFI have favorable properties to assess patients with spinocerebellar ataxia.
Schmitz-Hübsch
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T
Department of Neurology, University Hospital of Bonn, Sigmund-Freud-Str 25, D-53105 Bonn, Germany. tanja.schmitz-huebsch@ukb.uni-bonn.de
Giunti
P
P
Stephenson
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DA
Globas
C
C
Baliko
L
L
Saccà
F
F
Mariotti
C
C
Rakowicz
M
M
Szymanski
S
S
Infante
J
J
van de Warrenburg
B P C
BP
Timmann
D
D
Fancellu
R
R
Rola
R
R
Depondt
C
C
Schöls
L
L
Zdzienicka
E
E
Kang
J-S
JS
Döhlinger
S
S
Kremer
B
B
Melegh
B
B
Filla
A
A
Klockgether
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D004185:Disability Evaluation; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009048:Motor Skills / Q000502:physiology*; D020754:Spinocerebellar Ataxias / Q000503:physiopathology*