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@ARTICLE{Iskandar:277976,
      author       = {Iskandar, Audrey and Buchholz, Maresa and Blotenberg, Iris
                      and Schmitz-Hübsch, Tanja and Faber, Jennifer and Jacobi,
                      Heike and Xie, Feng and Grobe-Einsler, Marcus and
                      Klockgether, Thomas and Michalowsky, Bernhard and ESMI},
      collaboration = {groups, EUROSCA Study},
      othercontributors = {Reetz, Kathrin and Raponso, Mafalda and Gonzales, Carlos
                          and Koyak, Berkan and Oender, Demet and de Almeida, Luís
                          Pereira and Silva, Patrick and Ribeiro, Joana Afonso and
                          Thieme, Andreas and Erdlenbruch, Friedrich and de Vries,
                          Jeroen and Onyike, Chiadikaobi and Giunti, Paola and
                          Garcia-Moreno, Hector and Öz, Gülin and Bischoff, Almut
                          and van de Warrenburg, Bart and van Gaalen, Judith and
                          Infante, Jon and Manrique, Leire and Schöls, Ludger and
                          Riess, Olaf and du Montcel, Sophie Tezenas and Bauer, Peter
                          and Giunti, Paola and Cook, Arron and Labrum, Robyn and
                          Parkinson, Michael H and Durr, Alexandra and Brice, Alexis
                          and Charles, Perrine and Marelli, Cecilia and Mariotti,
                          Caterina and Nanetti, Lorenzo and Panzeri, Marta and
                          Rakowicz, Maria and Sulek, Anna and Sobanska, Anna and
                          Hengel, Holger and Baliko, Laszlo and Melegh, Bela and
                          Filla, Alessandro and Antenora, Antonella and Berciano,
                          José and Timmann, Dagmar and Szymanski, Sandra and Boesch,
                          Sylvia and Kang, Jun-Suk and Padolfo, Massimo and Schulz,
                          Jörg B and Molho, Sonia and Diallo, Alhassane},
      title        = {{L}ongitudinal description of health-related quality of
                      life and depressive symptoms in poly{Q} spinocerebellar
                      ataxia patients.},
      journal      = {Journal of neurology},
      volume       = {272},
      number       = {5},
      issn         = {0367-004X},
      address      = {[Darmstadt]},
      publisher    = {Steinkopff},
      reportid     = {DZNE-2025-00508},
      pages        = {323},
      year         = {2025},
      abstract     = {Due to limited treatment options, managing symptoms has
                      dominated care for Spinocerebellar Ataxia (SCA). Little
                      attention has been given to health-related quality of life
                      (HRQoL) and depressive symptoms experienced by patients
                      across disease duration.To investigate the course of HRQoL
                      and the severity of depressive symptoms in SCA from disease
                      onset to 26 years after onset and identify influencing
                      factors.We analyzed data from two longitudinal SCA cohorts,
                      the EUROSCA (European Spinocerebellar Ataxia Registry) and
                      ESMI study (European Spinocerebellar Ataxia Type
                      3/Machado-Joseph Disease Initiative). Multilevel
                      mixed-effects models were employed to demonstrate the course
                      of HRQoL and depressive symptoms severity to investigate the
                      role of disease progression with disease duration as a
                      predictor of interest, along with time-varying clinical
                      variables and time-fixed covariates.Seven hundred seventy
                      four participants (Mage = 50.8 ± 13.4; $48.6\%$ female)
                      were included. HRQoL consistently decreased throughout
                      disease duration across all SCA subtypes, but the decline
                      was smallest in SCA6. The decrease in HRQoL was explained by
                      ataxia and depression severity and driven by increasing
                      problems with self-care, usual activities and mobility.
                      Depressive symptoms significantly increased in SCA2 and 3
                      only, with a trend toward slight improvement in SCA6.The
                      trend direction of HRQoL and its significant association
                      with the severity of ataxia symptoms align with the
                      literature. The rapid worsening of self-care problems, the
                      differential associations between depression and HRQoL
                      sub-dimensions in different SCA subtypes, and the
                      unexplainable resilience may warrant a deeper look at
                      patient-specific intra- and interpersonal factors.},
      keywords     = {Humans / Female / Male / Quality of Life: psychology /
                      Middle Aged / Spinocerebellar Ataxias: psychology /
                      Spinocerebellar Ataxias: complications / Spinocerebellar
                      Ataxias: genetics / Longitudinal Studies / Adult /
                      Depression: etiology / Depression: psychology / Aged /
                      Disease Progression / Severity of Illness Index / Registries
                      / Peptides: genetics / Ataxia (Other) / Genetic disorder
                      (Other) / Health-related quality of life (Other) /
                      Patient-centered care (Other) / Psychologic well-being
                      (Other) / Rare disease (Other) / polyglutamine (NLM
                      Chemicals) / Peptides (NLM Chemicals)},
      cin          = {AG Michalowsky / AG Hoffmann / AG Thyrian / Clinical
                      Research (Bonn) / Patient Studies (Bonn)},
      ddc          = {610},
      cid          = {I:(DE-2719)5000067 / I:(DE-2719)1510600 /
                      I:(DE-2719)1510800 / I:(DE-2719)1011001 /
                      I:(DE-2719)1011101},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      experiment   = {EXP:(DE-2719)ESMI-20140101},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC11982069},
      pubmed       = {pmid:40202598},
      doi          = {10.1007/s00415-025-13024-0},
      url          = {https://pub.dzne.de/record/277976},
}