TY  - JOUR
AU  - Cordts, Isabell
AU  - Fuetterer, Cornelia
AU  - Wachinger, Annika
AU  - von Heynitz, Ricarda
AU  - Kessler, Tobias
AU  - Freigang, Maren
AU  - Quinten, Anna Lisa
AU  - Bjelica, Bogdan
AU  - Brakemeier, Svenja
AU  - Hobbiebrunken, Elke
AU  - Hagenacker, Tim
AU  - Petri, Susanne
AU  - Koch, Jan Christoph
AU  - Hahn, Andreas
AU  - Lingor, Paul
AU  - Deschauer, Marcus
AU  - Günther, Rene
AU  - Weiler, Markus
AU  - Haller, Bernhard
AU  - Feneberg, Emily
TI  - Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen.
JO  - Neurology
VL  - 104
IS  - 5
SN  - 0028-3878
CY  - Philadelphia, Pa.
PB  - Wolters Kluwer
M1  - DKFZ-2025-00357
SP  - e213371
PY  - 2025
AB  - 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
KW  - Humans
KW  - Neurofilament Proteins: blood
KW  - Neurofilament Proteins: cerebrospinal fluid
KW  - Male
KW  - Female
KW  - Adult
KW  - Oligonucleotides: therapeutic use
KW  - Retrospective Studies
KW  - Middle Aged
KW  - Muscular Atrophy, Spinal: drug therapy
KW  - Muscular Atrophy, Spinal: blood
KW  - Muscular Atrophy, Spinal: cerebrospinal fluid
KW  - Biomarkers: blood
KW  - Biomarkers: cerebrospinal fluid
KW  - Young Adult
KW  - nusinersen (NLM Chemicals)
KW  - Neurofilament Proteins (NLM Chemicals)
KW  - neurofilament protein L (NLM Chemicals)
KW  - Oligonucleotides (NLM Chemicals)
KW  - Biomarkers (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:39946662
DO  - DOI:10.1212/WNL.0000000000213371
UR  - https://inrepo02.dkfz.de/record/298921
ER  -