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Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen.
Int J Mol Sci 2019; 20(21)IJ

Abstract

Nusinersen is the first approved drug for the treatment of spinal muscular atrophy (SMA). Treatment of SMA with nusinersen is based on a fixed dosing regimen. For other motoneuron diseases, such as amyotrophic lateral sclerosis (ALS), biomarkers are available for clinical diagnostics; however, no such biomarkers have yet been found for SMA. Serum and cerebrospinal fluid (CSF) samples of 11 patients with adult SMA type 3 were prospectively collected and analyzed during loading with nusinersen. Neurofilament heavy chain, tau protein, S100B protein, and neuron-specific enolase were investigated as potential biomarkers of motor neuron destruction. No significant pathological alterations in levels of neurofilament heavy chain, tau protein, or S100B protein were detected in the CSF or blood samples under baseline conditions or during loading with nusinersen. Neuron-specific enolase was marginally elevated in CSF and blood samples without significant alteration during treatment. In a mixed cohort of adult patients with SMA type 3, neurofilament heavy chain, tau protein, S100B protein, and neuron-specific enolase do not serve as potential biomarkers during the loading phase of nusinersen. The slow progression rate of SMA type 3 may not lead to detectable elevation of levels of these common markers of axonal degradation.

Authors+Show Affiliations

Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. andreas.totzeck@uk-essen.de.Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. benjamin.stolte@uk-essen.de.Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. kathrin.kizina@uk-essen.de.Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. saskia.bolz@uk-essen.de.Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. melina.schlag@uk-essen.de.Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. andreas.thimm@uk-essen.de.Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. christoph.kleinschnitz@uk-essen.de.Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. tim.hagenacker@uk-essen.de.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31671515

Citation

Totzeck, Andreas, et al. "Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients With Spinal Muscular Atrophy During Loading With Nusinersen." International Journal of Molecular Sciences, vol. 20, no. 21, 2019.
Totzeck A, Stolte B, Kizina K, et al. Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen. Int J Mol Sci. 2019;20(21).
Totzeck, A., Stolte, B., Kizina, K., Bolz, S., Schlag, M., Thimm, A., ... Hagenacker, T. (2019). Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen. International Journal of Molecular Sciences, 20(21), doi:10.3390/ijms20215397.
Totzeck A, et al. Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients With Spinal Muscular Atrophy During Loading With Nusinersen. Int J Mol Sci. 2019 Oct 30;20(21) PubMed PMID: 31671515.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen. AU - Totzeck,Andreas, AU - Stolte,Benjamin, AU - Kizina,Kathrin, AU - Bolz,Saskia, AU - Schlag,Melina, AU - Thimm,Andreas, AU - Kleinschnitz,Christoph, AU - Hagenacker,Tim, Y1 - 2019/10/30/ PY - 2019/10/14/received PY - 2019/10/24/revised PY - 2019/10/26/accepted PY - 2019/11/2/entrez KW - SMA KW - amyotrophic lateral sclerosis KW - antisense oligonucleotide KW - motor neuron disease JF - International journal of molecular sciences JO - Int J Mol Sci VL - 20 IS - 21 N2 - Nusinersen is the first approved drug for the treatment of spinal muscular atrophy (SMA). Treatment of SMA with nusinersen is based on a fixed dosing regimen. For other motoneuron diseases, such as amyotrophic lateral sclerosis (ALS), biomarkers are available for clinical diagnostics; however, no such biomarkers have yet been found for SMA. Serum and cerebrospinal fluid (CSF) samples of 11 patients with adult SMA type 3 were prospectively collected and analyzed during loading with nusinersen. Neurofilament heavy chain, tau protein, S100B protein, and neuron-specific enolase were investigated as potential biomarkers of motor neuron destruction. No significant pathological alterations in levels of neurofilament heavy chain, tau protein, or S100B protein were detected in the CSF or blood samples under baseline conditions or during loading with nusinersen. Neuron-specific enolase was marginally elevated in CSF and blood samples without significant alteration during treatment. In a mixed cohort of adult patients with SMA type 3, neurofilament heavy chain, tau protein, S100B protein, and neuron-specific enolase do not serve as potential biomarkers during the loading phase of nusinersen. The slow progression rate of SMA type 3 may not lead to detectable elevation of levels of these common markers of axonal degradation. SN - 1422-0067 UR - https://www.unboundmedicine.com/medline/citation/31671515/Neurofilament_Heavy_Chain_and_Tau_Protein_Are_Not_Elevated_in_Cerebrospinal_Fluid_of_Adult_Patients_with_Spinal_Muscular_Atrophy_during_Loading_with_Nusinersen L2 - http://www.mdpi.com/resolver?pii=ijms20215397 DB - PRIME DP - Unbound Medicine ER -