Open AccessGlial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy
Author(s) -
Freigang Maren,
Steinacker Petra,
Wurster Claudia D.,
SchreiberKatz Olivia,
Osmanovic Alma,
Petri Susanne,
Koch Jan C.,
Rostásy Kevin,
Huss André,
Tumani Hayrettin,
Winter Benedikt,
Falkenburger Björn,
Ludolph Albert C.,
Otto Markus,
Hermann Andreas,
Günther René
Publication year - 2022
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51645
Subject(s) - sma* , spinal muscular atrophy , medicine , astrogliosis , glial fibrillary acidic protein , cerebrospinal fluid , biomarker , atrophy , pathology , disease , neurofilament , central nervous system , immunohistochemistry , biology , biochemistry , mathematics , combinatorics
Objective Activated astroglia is involved in the pathophysiology of neurodegenerative diseases and has also been described in animal models of spinal muscular atrophy (SMA). Given the urgent need of biomarkers for treatment monitoring of new RNA‐modifying and gene replacement therapies in SMA, we examined glial fibrillary acidic protein concentrations in cerebrospinal fluid (cGFAP) as a marker of astrogliosis in SMA. Methods 58 adult patients and 21 children with genetically confirmed 5q‐associated SMA from four German motor neuron disease specialist care centers and 30 age‐ and sex‐matched controls were prospectively included in this study. cGFAP was measured and correlated to motor performance and disease severity. Additionally, we compared cGFAP with neurofilament light chain concentrations in cerebrospinal fluid (cNfL). Results cGFAP concentrations did not differ from controls but showed higher levels in more severely affected patients after adjustment for patients' age. Normalized cNfL values were associated with disease severity. Within 14 months of nusinersen treatment, cGFAP concentrations did not change, while cNfL decreased significantly. Interpretation cGFAP is not an outstanding biomarker in SMA, but might support the hypothesis that glial activation is involved in SMA pathology. Unlike previously suggested, cNfL may be a promising biomarker also in adult patients with SMA, which should be subject to further investigations.