%0 Journal Article
%A Cordts, Isabell
%A Fuetterer, Cornelia
%A Wachinger, Annika
%A von Heynitz, Ricarda
%A Kessler, Tobias
%A Freigang, Maren
%A Quinten, Anna Lisa
%A Bjelica, Bogdan
%A Brakemeier, Svenja
%A Hobbiebrunken, Elke
%A Hagenacker, Tim
%A Petri, Susanne
%A Koch, Jan Christoph
%A Hahn, Andreas
%A Lingor, Paul
%A Deschauer, Marcus
%A Günther, Rene
%A Weiler, Markus
%A Haller, Bernhard
%A Feneberg, Emily
%T Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen.
%J Neurology
%V 104
%N 5
%@ 0028-3878
%C Philadelphia, Pa.
%I Wolters Kluwer
%M DKFZ-2025-00357
%P e213371
%D 2025
%X The availability of disease-modifying therapies for 5q-associated spinal muscular atrophy (SMA) has heightened the need to identify suitable biomarkers. This study investigates neurofilament light chain (NfL) concentrations during long-term nusinersen treatment in adult SMA.In a retrospective study of prospectively collected data, NfL concentrations in the CSF (cNfL) and serum (sNfL) were measured in patients with SMA from 8 German centers and in neurologic controls using a single-molecule array (Simoa) assay. NfL concentrations and clinical characteristics, including the clinical scores Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R), were analyzed for defined treatment intervals (T1-T4 [loading phase until 4 months], T5-T8 [until 23 months], T9-T12 [until 37 months], and T13-T19 [until 60 months]). Linear mixed models with a random intercept were used to assess the changes in NfL levels during treatment, considering time and covariates as fixed effects.One hundred thirteen adult patients with SMA (median age 35, 46
%K Humans
%K Neurofilament Proteins: blood
%K Neurofilament Proteins: cerebrospinal fluid
%K Male
%K Female
%K Adult
%K Oligonucleotides: therapeutic use
%K Retrospective Studies
%K Middle Aged
%K Muscular Atrophy, Spinal: drug therapy
%K Muscular Atrophy, Spinal: blood
%K Muscular Atrophy, Spinal: cerebrospinal fluid
%K Biomarkers: blood
%K Biomarkers: cerebrospinal fluid
%K Young Adult
%K nusinersen (NLM Chemicals)
%K Neurofilament Proteins (NLM Chemicals)
%K neurofilament protein L (NLM Chemicals)
%K Oligonucleotides (NLM Chemicals)
%K Biomarkers (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39946662
%R 10.1212/WNL.0000000000213371
%U https://inrepo02.dkfz.de/record/298921