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000163741 037__ $$aDZNE-2022-00480
000163741 041__ $$aEnglish
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000163741 1001_ $$0P:(DE-2719)2811564$$aJacobi, Heike$$b0$$eFirst author$$udzne
000163741 245__ $$aEvolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6.
000163741 260__ $$aChichester [u.a.]$$bWiley$$c2022
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000163741 520__ $$aThe aim was to study the evolution of disability in spinocerebellar ataxias (SCAs) type 1, 2, 3, and 6 (SCA1, 2, 3, 6).We analyzed data of two longitudinal cohorts (RISCA, EUROSCA) which recruited ataxic and non-ataxic SCA1, SCA2, SCA3, and SCA6 mutation carriers. To study disability, we used a five-stage system for ataxia defined by walking ability (stages 0-3) and death (stage 4). Transitions were analyzed using a multi-state model with proportional transition hazards. Based on the hazard estimates, transition probabilities and the expected lengths of stay in each stage were calculated. We further studied the effect of sex and CAG repeat length on progression.Data of 3138 visits in 677 participants were analyzed. Median SARA scores for SCA1, SCA2, SCA3, and SCA6 ranged from 1.5 (interquartile range [IQR] = 0.0-3.5) to 3.5 (IQR = 1.4-6.1) in stage 0, 11.5 (IQR = 9.6-14.0) to 13.8 (IQR = 11.0-16.0) in stage 1, 19.0 (IQR = 17.0-21.0) to 23.8 (IQR = 19.5-27.0) in stage 2, and 28.5 (IQR = 26.0-32.5) to 34.0 (IQR = 32.6-37.1) in stage 3. Modeling allowed to calculate the subtype-specific probability to be in a certain stage at a given age and duration of each stage. CAG repeat length was associated with faster progression in SCA1 (HR, 95% CI: 1.1, 1.1-1.2), SCA2 (1.2, 1.1-1.3), and SCA3 (1.1, 1.0-1.2). In SCA6, female sex was associated with faster progression (1.7, 1.1-2.6).Our data are important for counselling of patients, assessment of the relevance of outcome markers, and design of clinical trials.
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000163741 650_2 $$2MeSH$$aDisease Progression
000163741 650_2 $$2MeSH$$aFemale
000163741 650_2 $$2MeSH$$aHumans
000163741 650_2 $$2MeSH$$aSpinocerebellar Ataxias: genetics
000163741 693__ $$0EXP:(DE-2719)SCA-20140101$$5EXP:(DE-2719)SCA-20140101$$eRegistry for Spinocerebellar Ataxies$$x0
000163741 7001_ $$0P:(DE-2719)2812594$$aSchaprian, Tamara$$b1$$udzne
000163741 7001_ $$aBeyersmann, Jan$$b2
000163741 7001_ $$aTezenas du Montcel, Sophie$$b3
000163741 7001_ $$0P:(DE-2719)2811245$$aSchmid, Matthias$$b4$$udzne
000163741 7001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b5$$eLast author$$udzne
000163741 7001_ $$aEUROSCA$$b6
000163741 7001_ $$aGroups, RISCA Study$$b7$$eCollaboration Author
000163741 773__ $$0PERI:(DE-600)2740696-9$$a10.1002/acn3.51515$$gVol. 9, no. 3, p. 286 - 295$$n3$$p286 - 295$$tAnnals of Clinical and Translational Neurology$$v9$$x2328-9503$$y2022
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000163741 9201_ $$0I:(DE-2719)1013028$$kAG Schmid$$lMathematics, statistics and informatics methods for support of population studies and clinical research$$x1
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