Prediction of the age at onset in spinocerebellar ataxia type 1 , 2 , 3 and 6 Sophie Tezenas du Montcel , 1 , 2 Alexandra Durr ,
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چکیده
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sulek, Caterina Mariotti, Rafal Rola, Ludger Schols, Peter Bauer, Isabelle Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz-Hübsch, Alessandro Filla, Dagmar Timmann, Bart P van de Warrenburg, Cecila Marelli, Jun-Suk Kang, Paola Giunti, Arron Cook, Laszlo Baliko, Melegh Bela, Sylvia Boesch, Sandra Szymanski, José Berciano, Jon Infante, Katrin Buerk, Marcella Masciullo, Roberto Di Fabio, Chantal Depondt, Susanne Ratka, Giovanni Stevanin, Thomas Klockgether, Alexis Brice, Jean-Louis Golmard
منابع مشابه
Prediction of the age at onset in spinocerebellar ataxia type 1 , 2 , 3 and 6 Sophie Tezenas du Montcel
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sulek, Caterina Mariotti, Rafal Rola, Ludger Schols, Peter Bauer, Isabelle Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz-Hübsch, Alessandro Filla, Dagmar Timmann, Bart P van de Warrenburg, Cecila Marelli, Jun-Su...
متن کاملPrediction of the age at onset in spinocerebellar ataxia type 1 , 2 , 3 and 6 Sophie
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sulek, Caterina Mariotti, Rafal Rola, Ludger Schols, Peter Bauer, Isabelle Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz-Hübsch, Alessandro Filla, Dagmar Timmann, Bart P van de Warrenburg, Cecila Marelli, Jun-Su...
متن کاملPrediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
BACKGROUND The most common spinocerebellar ataxias (SCA)--SCA1, SCA2, SCA3, and SCA6--are caused by (CAG)n repeat expansion. While the number of repeats of the coding (CAG)n expansions is correlated with the age at onset, there are no appropriate models that include both affected and preclinical carriers allowing for the prediction of age at onset. METHODS We combined data from two major Euro...
متن کاملSurvival and severity in dominant cerebellar ataxias
Inherited spinocerebellar ataxias (SCAs) are known to be genetically and clinically heterogeneous. Whether severity and survival are variable, however, is not known. We, therefore, studied survival and severity in 446 cases and 509 relatives with known mutations. Survival was 68 years [95% CI: 65-70] in 223 patients with polyglutamine expansions versus 80 years [73-84] in 23 with other mutation...
متن کاملThe natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.
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 meas...
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