Journal Article

FZJ-2019-02162

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

Diallo, A. ; Jacobi, H. ; Cook, A. ; Labrum, R. ; Durr, A. ; Brice, A. ; Charles, P. ; Marelli, C. ; Mariotti, C. ; Nanetti, L. ; Panzeri, M. ; Rakowicz, M. ; Sobanska, A. ; Sulek, A. ; Schmitz-Hübsch, T. ; Schöls, L. ; Hengel, H. ; Melegh, B. ; Filla, A. ; Antenora, A. ; Infante, J. ; Berciano, J. ; van de Warrenburg, B. P. ; Timmann, D. ; Boesch, S. ; Pandolfo, M. ; Schulz, J. B.FZJ* ; Bauer, P. ; Giunti, P. ; Kang, J.-S. ; Klockgether, T. ; Tezenas du Montcel, S. (Corresponding author)

2018
Lancet Publ. Group London

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Please use a persistent id in citations: doi:10.1016/S1474-4422(18)30042-5

Abstract: BackgroundSpinocerebellar ataxias are dominantly inherited progressive ataxia disorders that can lead to premature death. We aimed to study the overall survival of patients with the most common spinocerebellar ataxias (SCA1, SCA2, SCA3, and SCA6) and to identify the strongest contributing predictors that affect survival.MethodsIn this longitudinal cohort study (EUROSCA), we enrolled men and women, aged 18 years or older, from 17 ataxia referral centres in ten European countries; participants had positive genetic test results for SCA1, SCA2, SCA3, or SCA6 and progressive, otherwise unexplained, ataxias. Survival was defined as the time from enrolment to death for any reason. We used the Cox regression model adjusted for age at baseline to analyse survival. We used prognostic factors with a p value less than 0·05 from a multivariate model to build nomograms and assessed their performance based on discrimination and calibration. The EUROSCA study is registered with ClinicalTrials.gov, number NCT02440763.FindingsBetween July 1, 2005, and Aug 31, 2006, 525 patients with SCA1 (n=117), SCA2 (n=162), SCA3 (n=139), or SCA6 (n=107) were enrolled and followed up. The 10-year survival rate was 57% (95% CI 47–69) for SCA1, 74% (67–81) for SCA2, 73% (65–82) for SCA3, and 87% (80–94) for SCA6. Factors associated with shorter survival were: dysphagia (hazard ratio 4·52, 95% CI 1·83–11·15) and a higher value for the Scale for the Assessment and Rating of Ataxia (SARA) score (1·26, 1·19–1·33) for patients with SCA1; older age at inclusion (1·04, 1·01–1·08), longer CAG repeat length (1·16, 1·03–1·31), and higher SARA score (1·15, 1·10–1·20) for patients with SCA2; older age at inclusion (1·44, 1·20–1·74), dystonia (2·65, 1·21–5·53), higher SARA score (1·26, 1·17–1·35), and negative interaction between CAG and age at inclusion (0·994, 0·991–0·997) for patients with SCA3; and higher SARA score (1·17, 1·08–1·27) for patients with SCA6. The nomogram-predicted probability of 10-year survival showed good discrimination (c index 0·905 [SD 0·027] for SCA1, 0·822 [0·032] for SCA2, 0·891 [0·021] for SCA3, and 0·825 [0·054] for SCA6).

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Contributing Institute(s):

1. Jara-Institut Quantum Information (INM-11)

Research Program(s):

1. 572 - (Dys-)function and Plasticity (POF3-572) (POF3-572)

Appears in the scientific report 2019

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Ebsco Academic Search ; IF >= 25 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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