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

Mihaela Badina,

Gabriel Cristian Bejan,

Andrada Mirea

и другие.

Balneo and PRM Research Journal, Год журнала: 2025, Номер 16(Vol 16 No. 1), С. 777 - 777

Опубликована: Март 31, 2025

Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder caused by insufficient survival motor neuron (SMN) protein synthesis, leading to progressive loss and debilitating symptoms. This study evaluates cerebrospinal fluid (CSF) phosphorylated neurofilament-heavy chain (pNF-H) levels as predictive markers of function in 73 pediatric SMA patients undergoing nusinersen treatment. pNF-H, structural component neurons, released into the CSF serum during neuronal damage or degeneration. aims address this gap assessing pNF-H dynamics relation changes over course It examines evolution different time periods initial clinical biological parameters their progression at start treatment response therapy. Patients were stratified SMN2 gene copy number, which modulates disease severity inversely correlated with higher indicating more neurodegeneration. also function, baseline linked lower scores. During treatment, declined alongside improvements, supporting its role longitudinal biomarker. In 2 copies, larger early variations predicted better gains 1 years, while smaller maintenance improvement. 3 fluctuations associated scores, along creatinine years. Longitudinal analyses revealed that sustained decreases enhanced outcomes. The highlights level robust predictor efficacy, offering insights therapeutic impact. These findings underscore critical intervention personalized biomarker monitoring optimizing quality life for patients.

Язык: Английский

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

Mihaela Badina,

Gabriel Cristian Bejan,

Andrada Mirea

и другие.

Balneo and PRM Research Journal, Год журнала: 2025, Номер 16(Vol 16 No. 1), С. 777 - 777

Опубликована: Март 31, 2025

Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder caused by insufficient survival motor neuron (SMN) protein synthesis, leading to progressive loss and debilitating symptoms. This study evaluates cerebrospinal fluid (CSF) phosphorylated neurofilament-heavy chain (pNF-H) levels as predictive markers of function in 73 pediatric SMA patients undergoing nusinersen treatment. pNF-H, structural component neurons, released into the CSF serum during neuronal damage or degeneration. aims address this gap assessing pNF-H dynamics relation changes over course It examines evolution different time periods initial clinical biological parameters their progression at start treatment response therapy. Patients were stratified SMN2 gene copy number, which modulates disease severity inversely correlated with higher indicating more neurodegeneration. also function, baseline linked lower scores. During treatment, declined alongside improvements, supporting its role longitudinal biomarker. In 2 copies, larger early variations predicted better gains 1 years, while smaller maintenance improvement. 3 fluctuations associated scores, along creatinine years. Longitudinal analyses revealed that sustained decreases enhanced outcomes. The highlights level robust predictor efficacy, offering insights therapeutic impact. These findings underscore critical intervention personalized biomarker monitoring optimizing quality life for patients.

Язык: Английский

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