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@ARTICLE{Lischewski:285044,
      author       = {Lischewski, Stella Andrea and Dogan, Imis and Giunti, Paola
                      and Parkinson, Michael H and Mariotti, Caterina and Durr,
                      Alexandra and Ewenczyk, Claire and Boesch, Sylvia and
                      Nachbauer, Wolfgang and Klopstock, Thomas and Stendel,
                      Claudia and de Rivera Garrido, Francisco Javier Rodríguez
                      and Schöls, Ludger and Fleszar, Zofia and Klockgether,
                      Thomas and Grobe-Einsler, Marcus and Giordano, Ilaria and
                      Rai, Myriam and Pandolfo, Massimo and Jacobi, Heike and
                      Hilgers, Ralf-Dieter and Schulz, Jörg B and Reetz, Kathrin},
      collaboration = {Group, EFACTS Study},
      othercontributors = {Indelicato, Elisabetta and Amprosi, Matthias and Gellera,
                          Cinzia and Mongelli, Alessia and Castaldo, Anna and Fichera,
                          Mario and Bertini, Enrico and Vasco, Gessica and Biet, Marie
                          and Monin, Marie Lorraine and Holtbernd, Florian and Brcina,
                          Nikolina and Hohenfeld, Christian and Radelfahr, Florentine
                          and Bischoff, Almut and Hayer, Stefanie and Koutsis,
                          Georgios and Breza, Marianthi and Palau, Francesc and
                          O'Callaghan, Mar and Thomas-Black, Gilbert and Manso,
                          Katarina and Solanky, Nita and Labrum, Robyn},
      title        = {{A}nalysis of a {M}odified {V}ersion of the {I}nventory of
                      {N}on-{A}taxia {S}igns {O}ver 12 {Y}ears in {P}atients with
                      {F}riedreich's {A}taxia in the {EFACTS} {S}tudy.},
      journal      = {Movement disorders},
      volume       = {41},
      number       = {1},
      issn         = {0885-3185},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2026-00168},
      pages        = {200 - 211},
      year         = {2026},
      abstract     = {Friedreich's ataxia is a rare, neurodegenerative,
                      multisystem disorder. While ataxia is a hallmark, non-ataxia
                      signs, including muscle weakness, spasticity, and dysphagia
                      are equally disabling. The Inventory of Non-Ataxia Signs
                      (INAS) is a symptom list transformable to a 16-item count.To
                      evaluate the responsiveness of a modified INAS in this
                      population.Participants were drawn from the European
                      Friedreich's Ataxia Consortium for Translational Studies
                      (EFACTS). The modified INAS count (presence/absence, 0-16
                      scale) and modified INAS sum (severity-weighted, 0-84 scale)
                      were evaluated using linear mixed-models and standardized
                      response means (SRMs). Items rare $(<5\%)$ and
                      uncharacteristic in Friedreich's ataxia were excluded
                      (chorea, myoclonus, fasciculations, resting tremor,
                      rigidity) RESULTS: A total of 1129 participants (mean age,
                      32.3 years) were assessed for up to 12 years. The mean
                      modified INAS count was 4.6 (±2.2) and modified INAS sum
                      15.1 (± 9.9). Both correlated strongly with existing
                      outcome measures. Longitudinally, the modified INAS count
                      increased by 0.13 points/year $(95\%$ CI 0.12, 0.14; P <
                      0.001) and modified INAS sum by 0.68 points/year $(95\%$ CI
                      0.64, 0.72; P < 0.001). The modified INAS sum demonstrated
                      greater responsiveness, with SRMs of 0.26, 0.38, 0.53, and
                      0.80 at 1, 2, 3, and 5 years, respectively, compared with
                      0.16, 0.27, 0.31, and 0.46 for the modified INAS count. In
                      non-ambulatory patients and children, responsiveness of the
                      modified INAS sum was higher (SRM 0.82 and 1.7 at 5 years,
                      respectively).The modified INAS sum showed good
                      responsiveness over 5 years but not over 1-3 years. It may
                      supplement existing outcome measures, contributing to
                      holistic assessment of this multisystem disease, especially
                      in non-ambulatory patients, in whom ataxia-focused measures
                      may show ceiling effects, and children, who typically
                      progress faster. © 2025 The Author(s). Movement Disorders
                      published by Wiley Periodicals LLC on behalf of
                      International Parkinson and Movement Disorder Society.},
      keywords     = {Humans / Friedreich Ataxia: diagnosis / Friedreich Ataxia:
                      physiopathology / Friedreich Ataxia: complications / Male /
                      Female / Adult / Middle Aged / Young Adult / Severity of
                      Illness Index / Adolescent / Child / Friedreich's ataxia
                      (Other) / longitudinal (Other) / non‐ataxia symptoms
                      (Other)},
      cin          = {Clinical Research (Munich) / Clinical Research (Bonn) / AG
                      Schöls / Patient Studies (Bonn)},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015 / I:(DE-2719)1011001 /
                      I:(DE-2719)5000005 / I:(DE-2719)1011101},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41070559},
      pmc          = {pmc:PMC12882042},
      doi          = {10.1002/mds.70084},
      url          = {https://pub.dzne.de/record/285044},
}