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Published online before print August 6, 2008, doi:10.1212/01.wnl.0000325057.33666.72)
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Received December 5, 2007
Accepted May 27, 2008

Spinocerebellar ataxia type 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*

From the Department of Neurology, University Hospital of Bonn (T.S.-H., T.K.), Germany; Clinical Research Unit (M.C.), Department of Genetics and Cytogenetics (P.C., P.R., A.D.), Federation of the Nervous System Diseases (P.C.), Federative Institute for Neuroscience Research (IFR70) (P.R., A.D.), and Biostatistics and Medical Informatics Unit (S.T.M.), AP-HP, Pitié-Salpêtrière Hospital, Paris, France; Department of Human Genetics (P.B.) and Department of Neurology and Hertie-Institute for Clinical Brain Research (C.G., L.S.), University of Tübingen, Germany; Department of Molecular Neuroscience, Institute of Neurology (P.G., D.A.S.), Queen Square, London, UK; Department of Neurology and Stroke, County Hospital (L.B.), Veszprém, Hungary; Department of Neurology, University of Naples (A.F.), Italy; Department of Biochemistry and Genetics, Istituto Nazionale Neurologico C. Besta (C.M., R.F., S.D.), Milan, Italy; Institute of Psychiatry and Neurology (M.R., E.Z., R.R.), Warsaw, Poland; INSERM U679 (P.C., P.R., A.D.), Paris; UMR S679, Pitié-Salpêtrière Hospital (P.R., A.D.), and EA 3974, Modeling in Clinical Research (S.T.M.), Pierre and Marie Curie Paris6 University, Paris, France; Department of Neurology, St. Josef Hospital, University Hospital of Bochum (S.S.), Germany; Department of Neurology, University Hospital "Marqués de Valldecilla," CIBERNED (J.I.), Santander, Spain; Department of Neurology, Radboud University Nijmegen Medical Center (B.P.C.v.d.W., B.K.), The Netherlands; Department of Neurology, University of Duisburg-Essen (D.T.), Essen, Germany; Department of Neurology, University of Innsbruck (S.B.), Austria; Department of Neurology, Hôpital Erasme, Université Libre de Bruxelles (C.D., M.P.), Brussels, Belgium; Department of Neurology, University of Frankfurt (J.-S.K.), Frankfurt/M, Germany; Department of Neurodegeneration and Restorative Research, Centers of Molecular Physiology of the Brain and Neurological Medicine, University of Göttingen (S.d.D.), Germany; and Department of Medical Genetics and Child Development, University of Pécs (B.M.), Hungary.


* To whom correspondence should be addressed. E-mail: 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.




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