Biomarker Evolution in Pediatric SMA: Insights from CSF pNF-H Dynamics and SMN2 Copy Number During Nusinersen Therapy

Biomarker Evolution in Pediatric SMA: Insights from CSF pNF-H Dynamics and SMN2 Copy Number During Nusinersen Therapy

Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder caused by insufficient survival motor neuron (SMN) protein synthesis, leading to progressive motor neuron loss and debilitating symptoms. This study evaluates cerebrospinal fluid (CSF) phosphorylated neurofilament-heavy chain (pNF-...

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Bibliographic Details
Main Authors: Mihaela Badina, Gabriel Cristian Bejan, Andrada Mirea, Corina Sporea, Madalina Cristina Leanca, Georgiana Nicolae, Ioana Elena Cioca, Maria Veronica Morcov, Angelo Pellegrini, Elena-Nicoleta Bordea
Format: Article
Language:English
Published: Romanian Association of Balneology, Editura Balneara 2025-03-01
Series:Balneo and PRM Research Journal
Subjects:
spinal muscular atrophy
cerebrospinal fluid
pnf-h neurofilaments
creatinine
biomarkers
motor evolution
neurodegenerative disease
spinraza nusinersen
smn2 copy
predictive factor marker
Online Access:https://bioclima.ro/Balneo777.pdf
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