Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy.

ABSTRACT:

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 c

SUBMITTER: Freigang M 

PROVIDER: S-EPMC9463944 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature