Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

T. Schmitz-Hübsch, M. Coudert, P. Bauer, P. Giunti, C. Globas, L. Baliko, A. Filla, C. Mariotti, M. Rakowicz, P. Charles, P. Ribai, S. Szymanski, J. Infante, B. P C Van De Warrenburg, A. Dürr, D. Timmann, S. Boesch, R. Fancellu, R. Rola, C. DepondtL. Schöls, E. Zdienicka, J. S. Kang, S. Döhlinger, B. Kremer, D. A. Stephenson, B. Melegh, M. Pandolfo, S. Di Donato, S. Tezenas Du Montcel, T. Klockgether

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)982-989
Number of pages8
JournalNeurology
Volume71
Issue number13
DOIs
Publication statusPublished - Sep 23 2008

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Spinocerebellar Ataxias
Ataxia
Age of Onset
Equipment and Supplies
Alleles
Phenotype

ASJC Scopus subject areas

  • Clinical Neurology

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Schmitz-Hübsch, T., Coudert, M., Bauer, P., Giunti, P., Globas, C., Baliko, L., ... Klockgether, T. (2008). Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms. Neurology, 71(13), 982-989. https://doi.org/10.1212/01.wnl.0000325057.33666.72

Spinocerebellar ataxia types 1, 2, 3, and 6 : Disease severity and nonataxia symptoms. / Schmitz-Hübsch, T.; Coudert, M.; Bauer, P.; Giunti, P.; Globas, C.; Baliko, L.; Filla, A.; Mariotti, C.; Rakowicz, M.; Charles, P.; Ribai, P.; Szymanski, S.; Infante, J.; Van De Warrenburg, B. P C; Dürr, A.; Timmann, D.; Boesch, S.; Fancellu, R.; Rola, R.; Depondt, C.; Schöls, L.; Zdienicka, E.; Kang, J. S.; Döhlinger, S.; Kremer, B.; Stephenson, D. A.; Melegh, B.; Pandolfo, M.; Di Donato, S.; Du Montcel, S. Tezenas; Klockgether, T.

In: Neurology, Vol. 71, No. 13, 23.09.2008, p. 982-989.

Research output: Contribution to journalArticle

Schmitz-Hübsch, T, Coudert, M, Bauer, P, Giunti, P, Globas, C, Baliko, L, Filla, A, Mariotti, C, Rakowicz, M, Charles, P, Ribai, P, Szymanski, S, Infante, J, Van De Warrenburg, BPC, Dürr, A, Timmann, D, Boesch, S, Fancellu, R, Rola, R, Depondt, C, Schöls, L, Zdienicka, E, Kang, JS, Döhlinger, S, Kremer, B, Stephenson, DA, Melegh, B, Pandolfo, M, Di Donato, S, Du Montcel, ST & Klockgether, T 2008, 'Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms', Neurology, vol. 71, no. 13, pp. 982-989. https://doi.org/10.1212/01.wnl.0000325057.33666.72
Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L et al. Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms. Neurology. 2008 Sep 23;71(13):982-989. https://doi.org/10.1212/01.wnl.0000325057.33666.72
Schmitz-Hübsch, T. ; Coudert, M. ; Bauer, P. ; Giunti, P. ; Globas, C. ; Baliko, L. ; Filla, A. ; Mariotti, C. ; Rakowicz, M. ; Charles, P. ; Ribai, P. ; Szymanski, S. ; Infante, J. ; Van De Warrenburg, B. P C ; Dürr, A. ; Timmann, D. ; Boesch, S. ; Fancellu, R. ; Rola, R. ; Depondt, C. ; Schöls, L. ; Zdienicka, E. ; Kang, J. S. ; Döhlinger, S. ; Kremer, B. ; Stephenson, D. A. ; Melegh, B. ; Pandolfo, M. ; Di Donato, S. ; Du Montcel, S. Tezenas ; Klockgether, T. / Spinocerebellar ataxia types 1, 2, 3, and 6 : Disease severity and nonataxia symptoms. In: Neurology. 2008 ; Vol. 71, No. 13. pp. 982-989.
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abstract = "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.",
author = "T. Schmitz-H{\"u}bsch and M. Coudert and P. Bauer and P. Giunti and C. Globas and L. Baliko and A. Filla and C. Mariotti and M. Rakowicz and P. Charles and P. Ribai and S. Szymanski and J. Infante and {Van De Warrenburg}, {B. P C} and A. D{\"u}rr and D. Timmann and S. Boesch and R. Fancellu and R. Rola and C. Depondt and L. Sch{\"o}ls and E. Zdienicka and Kang, {J. S.} and S. D{\"o}hlinger and B. Kremer and Stephenson, {D. A.} and B. Melegh and M. Pandolfo and {Di Donato}, S. and {Du Montcel}, {S. Tezenas} and T. Klockgether",
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TY - JOUR

T1 - Spinocerebellar ataxia types 1, 2, 3, and 6

T2 - Disease severity and nonataxia symptoms

AU - Schmitz-Hübsch, T.

AU - Coudert, M.

AU - Bauer, P.

AU - Giunti, P.

AU - Globas, C.

AU - Baliko, L.

AU - Filla, A.

AU - Mariotti, C.

AU - Rakowicz, M.

AU - Charles, P.

AU - Ribai, P.

AU - Szymanski, S.

AU - Infante, J.

AU - Van De Warrenburg, B. P C

AU - Dürr, A.

AU - Timmann, D.

AU - Boesch, S.

AU - Fancellu, R.

AU - Rola, R.

AU - Depondt, C.

AU - Schöls, L.

AU - Zdienicka, E.

AU - Kang, J. S.

AU - Döhlinger, S.

AU - Kremer, B.

AU - Stephenson, D. A.

AU - Melegh, B.

AU - Pandolfo, M.

AU - Di Donato, S.

AU - Du Montcel, S. Tezenas

AU - Klockgether, T.

PY - 2008/9/23

Y1 - 2008/9/23

N2 - 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.

AB - 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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