% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Jacobi:163741,
      author       = {Jacobi, Heike and Schaprian, Tamara and Beyersmann, Jan and
                      Tezenas du Montcel, Sophie and Schmid, Matthias and
                      Klockgether, Thomas and EUROSCA},
      collaboration = {Groups, RISCA Study},
      title        = {{E}volution of disability in spinocerebellar ataxias type
                      1, 2, 3, and 6.},
      journal      = {Annals of Clinical and Translational Neurology},
      volume       = {9},
      number       = {3},
      issn         = {2328-9503},
      address      = {Chichester [u.a.]},
      publisher    = {Wiley},
      reportid     = {DZNE-2022-00480},
      pages        = {286 - 295},
      year         = {2022},
      abstract     = {The 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.},
      keywords     = {Disease Progression / Female / Humans / Spinocerebellar
                      Ataxias: genetics},
      cin          = {Patient studies, Bonn / AG Schmid / AG Klockgether},
      ddc          = {610},
      cid          = {I:(DE-2719)1011101 / I:(DE-2719)1013028 /
                      I:(DE-2719)1011001},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      experiment   = {EXP:(DE-2719)SCA-20140101},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35188716},
      pmc          = {pmc:PMC8935317},
      doi          = {10.1002/acn3.51515},
      url          = {https://pub.dzne.de/record/163741},
}