TY  - JOUR
AU  - Vill, Katharina
AU  - Tacke, Moritz
AU  - König, Anna
AU  - Baumann, Matthias
AU  - Baumgartner, Manuela
AU  - Steinbach, Meike
AU  - Bernert, Guenther
AU  - Blaschek, Astrid
AU  - Deschauer, Marcus
AU  - Flotats-Bastardas, Marina
AU  - Friese, Johannes
AU  - Goldbach, Susanne
AU  - Gross, Martin
AU  - Günther, René
AU  - Hahn, Andreas
AU  - Hagenacker, Tim
AU  - Hauser, Erwin
AU  - Horber, Veronka
AU  - Illsinger, Sabine
AU  - Johannsen, Jessika
AU  - Kamm, Christoph
AU  - Koch, Jan C
AU  - Koelbel, Heike
AU  - Koehler, Cornelia
AU  - Kolzter, Kirsten
AU  - Lochmüller, Hanns
AU  - Ludolph, Albert
AU  - Mensch, Alexander
AU  - Meyer Zu Hoerste, Gerd
AU  - Mueller, Monika
AU  - Mueller-Felber, Wolfgang
AU  - Neuwirth, Christoph
AU  - Petri, Susanne
AU  - Probst-Schendzielorz, Kristina
AU  - Pühringer, Manuel
AU  - Steinbach, Robert
AU  - Schara-Schmidt, Ulrike
AU  - Schimmel, Mareike
AU  - Schrank, Bertold
AU  - Schwartz, Oliver
AU  - Schlachter, Kurt
AU  - Schwerin-Nagel, Annette
AU  - Schreiber, Gudrun
AU  - Smitka, Martin
AU  - Topakian, Raffi
AU  - Trollmann, Regina
AU  - Tuerk, Matthias
AU  - Theophil, Manuela
AU  - Rauscher, Christian
AU  - Vorgerd, Mathias
AU  - Walter, Maggie C
AU  - Weiler, Markus
AU  - Weiss, Claudia
AU  - Wilichowski, Ekkehard
AU  - Wurster, Claudia
AU  - Wunderlich, Gilbert
AU  - Zeller, Daniel
AU  - Ziegler, Andreas
AU  - Kirschner, Janbernd
AU  - Pechmann, Astrid
TI  - 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
JO  - Journal of neurology
VL  - 271
IS  - 5
SN  - 0367-004X
CY  - Heidelberg
PB  - Springer
M1  - DZNE-2024-00510
SP  - 2787 - 2797
PY  - 2024
AB  - 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
KW  - Humans
KW  - Retrospective Studies
KW  - Male
KW  - Female
KW  - Survival of Motor Neuron 2 Protein: genetics
KW  - Child, Preschool
KW  - Child
KW  - Muscular Atrophy, Spinal: genetics
KW  - Muscular Atrophy, Spinal: diagnosis
KW  - Infant
KW  - Adolescent
KW  - Disease Progression
KW  - Age of Onset
KW  - Registries
KW  - Germany
KW  - Switzerland
KW  - Austria: epidemiology
KW  - Young Adult
KW  - Neonatal Screening
KW  - Infant, Newborn
KW  - Adult
KW  - SMN2 (Other)
KW  - Age of onset (Other)
KW  - Molecular therapies (Other)
KW  - Neonatal screening (Other)
KW  - Pre-symptomatic treatment (Other)
KW  - SMA (Other)
KW  - Spinal muscular atrophy (Other)
KW  - Survival of Motor Neuron 2 Protein (NLM Chemicals)
KW  - SMN2 protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC11055798
C6  - pmid:38409538
DO  - DOI:10.1007/s00415-024-12188-5
UR  - https://pub.dzne.de/record/269341
ER  -