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@ARTICLE{Vill:269341,
      author       = {Vill, Katharina and Tacke, Moritz and König, Anna and
                      Baumann, Matthias and Baumgartner, Manuela and Steinbach,
                      Meike and Bernert, Guenther and Blaschek, Astrid and
                      Deschauer, Marcus and Flotats-Bastardas, Marina and Friese,
                      Johannes and Goldbach, Susanne and Gross, Martin and
                      Günther, René and Hahn, Andreas and Hagenacker, Tim and
                      Hauser, Erwin and Horber, Veronka and Illsinger, Sabine and
                      Johannsen, Jessika and Kamm, Christoph and Koch, Jan C and
                      Koelbel, Heike and Koehler, Cornelia and Kolzter, Kirsten
                      and Lochmüller, Hanns and Ludolph, Albert and Mensch,
                      Alexander and Meyer Zu Hoerste, Gerd and Mueller, Monika and
                      Mueller-Felber, Wolfgang and Neuwirth, Christoph and Petri,
                      Susanne and Probst-Schendzielorz, Kristina and Pühringer,
                      Manuel and Steinbach, Robert and Schara-Schmidt, Ulrike and
                      Schimmel, Mareike and Schrank, Bertold and Schwartz, Oliver
                      and Schlachter, Kurt and Schwerin-Nagel, Annette and
                      Schreiber, Gudrun and Smitka, Martin and Topakian, Raffi and
                      Trollmann, Regina and Tuerk, Matthias and Theophil, Manuela
                      and Rauscher, Christian and Vorgerd, Mathias and Walter,
                      Maggie C and Weiler, Markus and Weiss, Claudia and
                      Wilichowski, Ekkehard and Wurster, Claudia and Wunderlich,
                      Gilbert and Zeller, Daniel and Ziegler, Andreas and
                      Kirschner, Janbernd and Pechmann, Astrid},
      collaboration = {group, SMArtCARE study},
      title        = {5q{SMA}: standardised retrospective natural history
                      assessment in 268 patients with four copies of {SMN}2.},
      journal      = {Journal of neurology},
      volume       = {271},
      number       = {5},
      issn         = {0367-004X},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DZNE-2024-00510},
      pages        = {2787 - 2797},
      year         = {2024},
      abstract     = {Newborn screening for 5qSMA offers the potential for early,
                      ideally pre-symptomatic, therapeutic intervention. However,
                      limited data exist on the outcomes of individuals with 4
                      copies of SMN2, and there is no consensus within the SMA
                      treatment community regarding early treatment initiation in
                      this subgroup. To provide evidence-based insights into
                      disease progression, we performed a retrospective analysis
                      of 268 patients with 4 copies of SMN2 from the SMArtCARE
                      registry in Germany, Austria and Switzerland. Inclusion
                      criteria required comprehensive baseline data and diagnosis
                      outside of newborn screening. Only data prior to initiation
                      of disease-modifying treatment were included. The median age
                      at disease onset was 3.0 years, with a mean of 6.4 years.
                      Significantly, $55\%$ of patients experienced symptoms
                      before the age of 36 months. $3\%$ never learned to sit
                      unaided, a further $13\%$ never gained the ability to walk
                      independently and $33\%$ of ambulatory patients lost this
                      ability during the course of the disease. $43\%$ developed
                      scoliosis, $6.3\%$ required non-invasive ventilation and
                      $1.1\%$ required tube feeding. In conclusion, our study, in
                      line with previous observations, highlights the substantial
                      phenotypic heterogeneity in SMA. Importantly, this study
                      provides novel insights: the median age of disease onset in
                      patients with 4 SMN2 copies typically occurs before school
                      age, and in half of the patients even before the age of
                      three years. These findings support a proactive approach,
                      particularly early treatment initiation, in this subset of
                      SMA patients diagnosed pre-symptomatically. However, it is
                      important to recognize that the register will not include
                      asymptomatic individuals.},
      keywords     = {Humans / Retrospective Studies / Male / Female / Survival
                      of Motor Neuron 2 Protein: genetics / Child, Preschool /
                      Child / Muscular Atrophy, Spinal: genetics / Muscular
                      Atrophy, Spinal: diagnosis / Infant / Adolescent / Disease
                      Progression / Age of Onset / Registries / Germany /
                      Switzerland / Austria: epidemiology / Young Adult / Neonatal
                      Screening / Infant, Newborn / Adult / SMN2 (Other) / Age of
                      onset (Other) / Molecular therapies (Other) / Neonatal
                      screening (Other) / Pre-symptomatic treatment (Other) / SMA
                      (Other) / Spinal muscular atrophy (Other) / Survival of
                      Motor Neuron 2 Protein (NLM Chemicals) / SMN2 protein, human
                      (NLM Chemicals)},
      cin          = {LIS},
      ddc          = {610},
      cid          = {I:(DE-2719)1040260},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC11055798},
      pubmed       = {pmid:38409538},
      doi          = {10.1007/s00415-024-12188-5},
      url          = {https://pub.dzne.de/record/269341},
}