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.
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.
Authors: O Riess; L Schöls; H Bottger; D Nolte; A M Vieira-Saecker; C Schimming; F Kreuz; M Macek; A Krebsová; T Klockgether; C Zühlke; F A Laccone Journal: Hum Mol Genet Date: 1997-08 Impact factor: 6.150
Authors: L Schöls; S Gispert; M Vorgerd; A M Menezes Vieira-Saecker; P Blanke; G Auburger; G Amoiridis; S Meves; J T Epplen; H Przuntek; S M Pulst; O Riess Journal: Arch Neurol Date: 1997-09
Authors: A Filla; G De Michele; G Campanella; A Perretti; L Santoro; L Serlenga; M Ragno; O Calabrese; I Castaldo; G De Joanna; S Cocozza Journal: J Neurol Sci Date: 1996-10 Impact factor: 3.181
Authors: T Klockgether; R Lüdtke; B Kramer; M Abele; K Bürk; L Schöls; O Riess; F Laccone; S Boesch; I Lopes-Cendes; A Brice; R Inzelberg; N Zilber; J Dichgans Journal: Brain Date: 1998-04 Impact factor: 13.501
Authors: G Imbert; F Saudou; G Yvert; D Devys; Y Trottier; J M Garnier; C Weber; J L Mandel; G Cancel; N Abbas; A Dürr; O Didierjean; G Stevanin; Y Agid; A Brice Journal: Nat Genet Date: 1996-11 Impact factor: 38.330
Authors: O Zhuchenko; J Bailey; P Bonnen; T Ashizawa; D W Stockton; C Amos; W B Dobyns; S H Subramony; H Y Zoghbi; C C Lee Journal: Nat Genet Date: 1997-01 Impact factor: 38.330
Authors: Bart P C van de Warrenburg; Harrie Hendriks; Alexandra Dürr; Martin C A van Zuijlen; Giovanni Stevanin; Agnès Camuzat; Richard J Sinke; Alexis Brice; Berry P H Kremer Journal: Ann Neurol Date: 2005-04 Impact factor: 10.422
Authors: Heike Jacobi; Sophie Tezenas du Montcel; Peter Bauer; Paola Giunti; Arron Cook; Robyn Labrum; Michael H Parkinson; Alexandra Durr; Alexis Brice; Perrine Charles; Cecilia Marelli; Caterina Mariotti; Lorenzo Nanetti; Lidia Sarro; Maria Rakowicz; Anna Sulek; Anna Sobanska; Tanja Schmitz-Hübsch; Ludger Schöls; Holger Hengel; Laszlo Baliko; Bela Melegh; Alessandro Filla; Antonella Antenora; Jon Infante; José Berciano; Bart P van de Warrenburg; Dagmar Timmann; Sandra Szymanski; Sylvia Boesch; Wolfgang Nachbauer; Jun-Suk Kang; Massimo Pandolfo; Jörg B Schulz; Audrey Tanguy Melac; Alhassane Diallo; Thomas Klockgether Journal: J Neurol Date: 2018-06-29 Impact factor: 4.849
Authors: H Jacobi; M Rakowicz; R Rola; R Fancellu; C Mariotti; P Charles; A Dürr; M Küper; D Timmann; C Linnemann; L Schöls; O Kaut; C Schaub; A Filla; L Baliko; B Melegh; J-S Kang; P Giunti; B P C van de Warrenburg; R Fimmers; T Klockgether Journal: Cerebellum Date: 2013-06 Impact factor: 3.847