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@ARTICLE{Lischewski:275887,
      author       = {Lischewski, Stella Andrea and Konrad, Kerstin and Dogan,
                      Imis and Didszun, Claire and Costa, Ana Sofia and Schawohl,
                      Sara Annabelle and Giunti, Paola and Parkinson, Michael H
                      and Mariotti, Caterina and Nanetti, Lorenzo 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 Schulz, Jörg B and
                      Reetz, Kathrin},
      collaboration = {group, EFACTS study},
      othercontributors = {Indelicato, Elisabetta and Ampros, 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 T and Hayer, Stefanie N 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        = {{L}ongitudinal analysis of anthropometric measures over 5
                      years in patients with {F}riedreich ataxia in the {EFACTS}
                      natural history study.},
      journal      = {European journal of neurology},
      volume       = {32},
      number       = {1},
      issn         = {1351-5101},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DZNE-2025-00122},
      pages        = {e70011},
      year         = {2025},
      abstract     = {Friedreich ataxia is a rare neurodegenerative disorder
                      caused by frataxin deficiency. Both underweight and
                      overweight occur in mitochondrial disorders, each with
                      adverse health outcomes. We investigated the longitudinal
                      evolution of anthropometric abnormalities in Friedreich
                      ataxia and the hypothesis that both weight loss and weight
                      gain are associated with faster disease
                      progression.Participants were drawn from the European
                      Friedreich's Ataxia Consortium for Translational Studies
                      (EFACTS). Age- and sex-specific BMI and height scores were
                      calculated using the KIGGS-BMI percentiles for children.
                      Height correction was applied for scoliosis. Longitudinal
                      data were analysed using linear mixed effects models and
                      incremental standard deviation scores and growth mixture
                      models identified subclasses with varying BMI
                      trajectories.Five hundred and forty-three adults and
                      fifty-nine children were assessed for up to 5 years. In
                      children, severe underweight $(26\%),$ underweight $(7\%),$
                      severe short stature $(16\%)$ and short stature $(23\%)$
                      were common. The corrected BMI percentile was stable in
                      children, although $48\%$ had negative incremental BMI
                      scores over 1 year and $63\%$ over 3 years versus
                      $10\%/year$ in a normal reference cohort. Overweight was
                      common in adults $(19\%),$ with a slight increase in BMI
                      over time. Longer GAA repeat size was linked to lower BMI in
                      adults. Weight trajectory was not associated with ataxia
                      progression in adults.Significant anthropometric
                      abnormalities were identified, with underweight and short
                      stature prevalent in children and overweight in adults.
                      These findings highlight the need for regular nutritional
                      monitoring and interventions to manage underweight in
                      children and promote healthy weight in adults.},
      keywords     = {Humans / Friedreich Ataxia: epidemiology / Friedreich
                      Ataxia: complications / Friedreich Ataxia: physiopathology /
                      Male / Female / Longitudinal Studies / Adult / Child /
                      Adolescent / Disease Progression / Body Mass Index / Young
                      Adult / Thinness: epidemiology / Middle Aged / Anthropometry
                      / Overweight: epidemiology / Overweight: complications /
                      Friedreich ataxia (Other) / body height (Other) / body mass
                      index (Other) / natural history (Other) / underweight
                      (Other)},
      cin          = {Clinical Research (Munich) / AG Schöls / AG Gasser /
                      Patient Studies (Bonn) / Clinical Research (Bonn)},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015 / I:(DE-2719)5000005 /
                      I:(DE-2719)1210000 / I:(DE-2719)1011101 /
                      I:(DE-2719)1011001},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39797559},
      pmc          = {pmc:PMC11724196},
      doi          = {10.1111/ene.70011},
      url          = {https://pub.dzne.de/record/275887},
}