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

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

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

Afiliación

Jacobi H; Department of Neurology, University Hospital of Bonn, Bonn, Germany.

Neurology ; 77(11): 1035-41, 2011 Sep 13.

Article en En | MEDLINE | ID: mdl-21832228

RESUMEN

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.

Asunto(s)

Progresión de la Enfermedad; Enfermedad de Machado-Joseph/clasificación; Enfermedad de Machado-Joseph/diagnóstico; Ataxias Espinocerebelosas/clasificación; Ataxias Espinocerebelosas/diagnóstico; Adolescente; Adulto; Anciano; Anciano de 80 o más Años; Estudios de Cohortes; Femenino; Estudios de Seguimiento; Humanos; Estudios Longitudinales; Enfermedad de Machado-Joseph/epidemiología; Masculino; Persona de Mediana Edad; Estudios Prospectivos; Estudios Retrospectivos; Ataxias Espinocerebelosas/epidemiología; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Machado-Joseph / Progresión de la Enfermedad / Ataxias Espinocerebelosas Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Neurology Año: 2011 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos

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