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@ARTICLE{Baumeister:284029,
      author       = {Baumeister, Hannah and Wegner, Philipp and Ferreira,
                      Mónica and Schaprian, Tamara and França, Marcondes C and
                      Rezende, Thiago Junqueira Ribeiro and Muro Martinez, Alberto
                      Rolim and Jiang, Hong and Chen, Zhao and Weihua, Liao and
                      Grobe-Einsler, Marcus and Koyak, Berkan and Önder, Demet
                      and van de Warrenburg, Bart and van Gaalen, Judith and Durr,
                      Alexandra and Coarelli, Giulia and Synofzik, Matthis and
                      Schöls, Ludger and Giunti, Paola and Garcia-Moreno, Hector
                      and Öz, Gülin and Joers, James and Timmann, Dagmar and
                      Thieme, Andreas G and Jacobi, Heike and de Vries, Jeroen and
                      Barker, Peter and Onyike, Chiadikaobi and Ratai, Eva-Maria
                      and Schmahmann, Jeremy D and Reetz, Kathrin and Infante, Jon
                      and Huebener-Schmid, Jeannette and Kuegler, David and
                      Klockgether, Thomas and Berron, David and Faber, Jennifer},
      collaboration = {DELCODE/DANCER and Groups, ESMI MRI Study},
      othercontributors = {Lüsebrink-Rindsland, Jann Falk Silvester and
                          HetzerBernsen, StefanSarah and Ewers, Michael and
                          Hellmann-Regen, Julian David Nicolai and Spruth, Eike Jakob
                          and Janowitz, Daniel and Kilimann, Ingo and Kronmüller,
                          Marie Theres and Spottke, Annika and Peters, Oliver and
                          Priller, Josef and Bürger, Katharina and Teipel, Stefan and
                          Jessen, Frank and Düzel, Emrah and Gamez, Anna and
                          Asperger, Hannah and Kimmich, Okka and Petzold, Gabor C and
                          Pracht, Eberhard and Stöcker, Tony},
      title        = {{B}rain atrophy staging in spinocerebellar ataxia type 3
                      for clinical prognosis and trial enrichment.},
      journal      = {EBioMedicine},
      volume       = {123},
      issn         = {2352-3964},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2026-00072},
      pages        = {106090},
      year         = {2026},
      abstract     = {Spinocerebellar ataxia type 3 (SCA3) is characterised by
                      progressive brain atrophy, with regional volume loss
                      detectable via MRI prior to clinical manifestation. We aimed
                      to identify the previously unknown sequence of brain atrophy
                      in SCA3 and evaluate whether this sequence can be translated
                      into an atrophy staging framework to enable accurate
                      clinical prognosis and trial enrichment.We included data
                      from 322 SCA3 mutation carriers, enrolled in observational
                      studies conducted across Europe, the Americas, and Asia.
                      Participants underwent follow-up assessments up to five
                      years after baseline. The Subtype and Stage Inference
                      machine learning algorithm was applied to estimate the most
                      likely atrophy sequence(s) from baseline anatomical MRI. The
                      Scale for the Assessment and Rating of Ataxia (SARA) was
                      used to capture ataxia severity. Atrophy stages were
                      analysed in relation to SARA and time from disease onset.
                      Interventional trials were simulated to estimate required
                      sample sizes under different atrophy stage eligibility
                      criteria.We identified a uniform sequence of brain atrophy
                      in SCA3, characterised by earliest volumetric decline in the
                      caudal brainstem and substantial involvement of the white
                      matter. Atrophy stage was associated with both SARA and time
                      from disease onset. Atrophy staging outperformed
                      single-region volumetrics in predicting SARA over time.
                      Applying atrophy stage cut-offs substantially reduced the
                      sample sizes needed to adequately power hypothetical
                      clinical trials.These findings yield mechanistic insights
                      into the progression of neurodegeneration in SCA3 and
                      possess immediate translational relevance, facilitating
                      patient stratification and sample enrichment for
                      interventional trials.National Ataxia Foundation (NAF).},
      keywords     = {Humans / Atrophy / Machado-Joseph Disease: pathology /
                      Machado-Joseph Disease: diagnosis / Machado-Joseph Disease:
                      genetics / Machado-Joseph Disease: diagnostic imaging /
                      Prognosis / Male / Magnetic Resonance Imaging / Brain:
                      pathology / Brain: diagnostic imaging / Female / Middle Aged
                      / Adult / Disease Progression / Severity of Illness Index /
                      Aged / Ataxia (Other) / Disease progression modelling
                      (Other) / Imaging biomarker (Other) / Machine learning
                      (Other) / Movement disorders (Other)},
      cin          = {Clinical Research (Bonn) / AG Berron / Clinical Research
                      Platform (CRP) / AG Radbruch / AG Spottke / AG Gasser / AG
                      Schöls / AG Reuter / Patient Studies (Bonn)},
      ddc          = {610},
      cid          = {I:(DE-2719)1011001 / I:(DE-2719)5000070 /
                      I:(DE-2719)1011401 / I:(DE-2719)5000075 / I:(DE-2719)1011103
                      / I:(DE-2719)1210000 / I:(DE-2719)5000005 /
                      I:(DE-2719)1040310 / I:(DE-2719)1011101},
      pnm          = {353 - Clinical and Health Care Research (POF4-353) / 354 -
                      Disease Prevention and Healthy Aging (POF4-354)},
      pid          = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-354},
      experiment   = {EXP:(DE-2719)DELCODE-20140101 /
                      EXP:(DE-2719)DANCER-20150101 / EXP:(DE-2719)ESMI-20140101},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41443080},
      pmc          = {pmc:PMC12800623},
      doi          = {10.1016/j.ebiom.2025.106090},
      url          = {https://pub.dzne.de/record/284029},
}