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Comparative Study
. 2011 Sep 13;77(11):1035-41.
doi: 10.1212/WNL.0b013e31822e7ca0. Epub 2011 Aug 10.

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study

H Jacobi  1 , P Bauer, P Giunti, R Labrum, M G Sweeney, P Charles, A Dürr, C Marelli, C Globas, C Linnemann, L Schöls, M Rakowicz, R Rola, E Zdzienicka, T Schmitz-Hübsch, R Fancellu, C Mariotti, C Tomasello, L Baliko, B Melegh, A Filla, C Rinaldi, B P van de Warrenburg, C C P Verstappen, S Szymanski, J Berciano, J Infante, D Timmann, S Boesch, S Hering, C Depondt, M Pandolfo, J-S Kang, S Ratzka, J Schulz, S Tezenas du Montcel, T Klockgether
Affiliations
Comparative Study

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study

H Jacobi et al. Neurology. .

Abstract

Objective: To obtain quantitative data on the progression of the most common spinocerebellar ataxias (SCAs) and identify factors that influence their progression, we initiated the EUROSCA natural history study, a multicentric longitudinal cohort study of 526 patients with SCA1, SCA2, SCA3, or SCA6. We report the results of the 1- and 2-year follow-up visits.

Methods: As the primary outcome measure we used the Scale for the Assessment and Rating of Ataxia (SARA, 0-40), and as a secondary measure the Inventory of Non-Ataxia Symptoms (INAS, 0-16) count.

Results: The annual increase of the SARA score was greatest in SCA1 (2.18 ± 0.17, mean ± SE) followed by SCA3 (1.61 ± 0.12) and SCA2 (1.40 ± 0.11). SARA progression in SCA6 was slowest and nonlinear (first year: 0.35 ± 0.34, second year: 1.44 ± 0.34). Analysis of the INAS count yielded similar results. Larger expanded repeats and earlier age at onset were associated with faster SARA progression in SCA1 and SCA2. In SCA1, repeat length of the expanded allele had a similar effect on INAS progression. In SCA3, SARA progression was influenced by the disease duration at inclusion, and INAS progression was faster in females.

Conclusions: Our study gives a comprehensive quantitative account of disease progression in SCA1, SCA2, SCA3, and SCA6 and identifies factors that specifically affect disease progression.

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Figures

Figure 1
Figure 1. Time course of disease progression in spinocerebellar ataxia (SCA)1, SCA2, SCA3, and SCA6 with Scale for the Assessment and Rating of Ataxia (SARA) (A) and Inventory of Non-Ataxia Symptoms (INAS) (B) as outcome measure
Figure 2
Figure 2. Effect of the repeat length of the expanded allele on evolution of Scale for the Assessment and Rating of Ataxia (SARA) (A) and Inventory of Non-Ataxia Symptoms (INAS) (B) in spinocerebellar ataxia (SCA) 1
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Comment in

References

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