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Published online before print August 6, 2008, doi:10.1212/01.wnl.0000325057.33666.72)
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NEUROLOGY 2008;71:982-989
© 2008 American Academy of Neurology

Spinocerebellar ataxia types 1, 2, 3, and 6

Disease severity and nonataxia symptoms

T. Schmitz-Hübsch, MD, M. Coudert, PhD, P. Bauer, MD, P. Giunti, MD, C. Globas, MD, L. Baliko, MD, A. Filla, MD, C. Mariotti, MD, M. Rakowicz, MD, P. Charles, MD, P. Ribai, MD, S. Szymanski, MD, J. Infante, MD, B.P.C. van de Warrenburg, MD, A. Dürr, MD, PhD, D. Timmann, MD, S. Boesch, MD, R. Fancellu, MD, R. Rola, MD, C. Depondt, MD, L. Schöls, MD, E. Zdienicka, MD, J. -S. Kang, MD, S. Döhlinger, MD, B. Kremer, MD, D. A. Stephenson, PhD, B. Melegh, MD, M. Pandolfo, MD, S. di Donato, MD, S. Tezenas du Montcel, MD, PhD and T. Klockgether, MD

Authors' affiliations are listed at the end of the article.

Address correspondence and reprint requests to Dr. T. Klockgether, Department of Neurology, University Hospital of Bonn, Sigmund-Freud-Straße 25, D-53105 Bonn, Germany klockgether{at}uni-bonn.de

Objective: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6.

Methods: To measure the severity of ataxia we used the Scale for the Assessment and Rating of Ataxia (SARA). In addition, nonataxia symptoms were assessed with the Inventory of Non-Ataxia Symptoms (INAS). The INAS count denotes the number of nonataxia symptoms in each patient.

Results: An analysis of covariance with SARA score as dependent variable and repeat lengths of the expanded and normal allele, age at onset, and disease duration as independent variables led to multivariate models that explained 60.4% of the SARA score variance in SCA1, 45.4% in SCA2, 46.8% in SCA3, and 33.7% in SCA6. In SCA1, SCA2, and SCA3, SARA was mainly determined by repeat length of the expanded allele, age at onset, and disease duration. The only factors determining the SARA score in SCA6 were age at onset and disease duration. The INAS count was 5.0 ± 2.3 in SCA1, 4.6 ± 2.2 in SCA2, 5.2 ± 2.5 in SCA3, and 2.0 ± 1.7 in SCA6. In SCA1, SCA2, and SCA3, SARA score and disease duration were the strongest predictors of the INAS count. In SCA6, only age at onset and disease duration had an effect on the INAS count.

Conclusions: Our study suggests that spinocerebellar ataxia (SCA) 1, SCA2, and SCA3 share a number of common biologic properties, whereas SCA6 is distinct in that its phenotype is more determined by age than by disease-related factors.

Abbreviations: INAS = Inventory of Non-Ataxia Symptoms; SARA = Scale for the Assessment and Rating of Ataxia; SCA = spinocerebellar ataxia.

Supplemental data at www.neurology.org.

e-Pub ahead of print on August 6, 2008, at www.neurology.org.

Supported by grants EUROSCA/LSHM-CT-2004-503304 from the European Union, GeneMove/01 GM 0503 from the German Ministry of Education and Research, and grant 3 PO5B 019 24 from the Polish Ministry of Scientific Research and Information Technology.

Disclosure: The authors report no disclosures.

Received December 5, 2007. Accepted in final form May 27, 2008.




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