Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy
Mihaela Badina,
Gabriel Cristian Bejan,
Corina Sporea,
Liliana Padure,
Andrada Mirea,
Madalina-Cristina Leanca,
Mihaela Axente,
Florin Petru Grigoras,
Mihaela Bejan,
Elena-Silvia Shelby,
Elena Neagu,
Daniela Adriana Ion
Affiliations
Mihaela Badina
Faculty of Medicine, University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021 Bucharest, Romania
Gabriel Cristian Bejan
Department of Family Medicine, University of Medicine and Pharmacy “Carol Davila”, 8 Eroii Sanitari Bvd., 050474 Bucharest, Romania
Corina Sporea
National Teaching Center for Children’s Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
Liliana Padure
National Teaching Center for Children’s Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
Andrada Mirea
National Teaching Center for Children’s Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
Madalina-Cristina Leanca
Faculty of Medicine, University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021 Bucharest, Romania
Mihaela Axente
Faculty of Medicine, University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021 Bucharest, Romania
Florin Petru Grigoras
National Teaching Center for Children’s Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
Mihaela Bejan
National Teaching Center for Children’s Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
Elena-Silvia Shelby
National Teaching Center for Children’s Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
Elena Neagu
National Teaching Center for Children’s Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
Daniela Adriana Ion
Department of Pathophysiology, National Institute for Infectious Diseases Prof. Dr. Matei Bals, University of Medicine and Pharmacy “Carol Davila”, 1 Calistrat Grozovici Street, 021105 Bucharest, Romania
Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscular atrophy. Materials and Methods: We analyzed the spinal muscular atrophy types, the number of copies of the SMN2 gene, and the progression of the motor status using specific motor function scales in a group of 38 patients with spinal muscular atrophy types 1, 2, and 3. Results: We found a significant inverse correlation between pNFH levels and patient age, progress on functional motor scales, and nusinersen administration. Our results also revealed that the neurofilament levels in the cerebrospinal fluid were higher in patients with 2 SMN2 copies than those with more than 2 copies, although the association was not statistically significant due to the abnormal distribution of the values. Conclusions: We identified several predictors of favorable evolution under nusinersen treatment, including spinal muscular atrophy type 1, children aged ≤ 30 months, and the presence of only 2 copies of SMN2. Our study provides important insights into the use of pNFH as a biomarker to monitor disease progression and responses to treatment in patients with spinal muscular atrophy.
