The motor neuron response to SMN1 deficiency in spinal muscular atrophy

Peter B. Kang; Clifton L. Gooch; Michael P. McDermott; Basil T. Darras; Richard S. Finkel; Michele L. Yang; Douglas M. Sproule; Wendy K. Chung; Petra Kaufmann; Darryl C. De Vivo; Maryam Oskoui; Andrei Constantinescu; A. Reghan Foley; Rabi Tawil; William B. Martens; Jacqueline Montes; Vanessa Battista; Jessica O'Hagen; Sally Dunaway; Jean Flickinger; Janet Quigley; Susan Riley; Erica Sanborn; Allan M. Glanzman; Maryjane Benton; Patricia Ryan; Mark Punyanitya; Megan J. Montgomery; Jonathan Marra; Benjamin Koo

doi:10.1002/mus.23967

The motor neuron response to SMN1 deficiency in spinal muscular atrophy

Peter B. Kang, Clifton L. Gooch, Michael P. McDermott, Basil T. Darras, Richard S. Finkel, Michele L. Yang, Douglas M. Sproule, Wendy K. Chung, Petra Kaufmann, Darryl C. De Vivo, Maryam Oskoui, Andrei Constantinescu, A. Reghan Foley, Rabi Tawil, William B. Martens, Jacqueline Montes, Vanessa Battista, Jessica O'Hagen, Sally Dunaway, Jean FlickingerJanet Quigley, Susan Riley, Erica Sanborn, Allan M. Glanzman, Maryjane Benton, Patricia Ryan, Mark Punyanitya, Megan J. Montgomery, Jonathan Marra, Benjamin Koo

Research output: Contribution to journal › Article › peer-review

34 Scopus citations

Abstract

Introduction: The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA). Methods: Sixty-two children with SMA types 2 and 3 were observed prospectively for up to 42 months. Longitudinal electrophysiological data were collected, including compound motor action potential (CMAP), single motor unit action potential (SMUP), and MUNE. Results: Significant motor neuron loss and compensatory collateral reinnervation were noted at baseline. Over time, there was a significant mean increase in MUNE (4.92 units/year, P=0.009), a mean decrease in SMUP amplitude (-6.32 μV/year, P=0.10), and stable CMAP amplitude. Conclusions: The unexpected longitudinal results differ from findings in amyotrophic lateral sclerosis studies, perhaps indicating that compensatory processes in SMA involve new motor unit development. A better understanding of the mechanisms of motor unit decline and compensation in SMA is important for assessing novel therapeutic strategies and for providing key insights into disease pathophysiology.

Original language	English (US)
Pages (from-to)	636-644
Number of pages	9
Journal	Muscle and Nerve
Volume	49
Issue number	5
DOIs	https://doi.org/10.1002/mus.23967
State	Published - May 2014
Externally published	Yes

Keywords

Compound motor action potential
Electrophysiology
Motor neuron disease
Motor unit number estimation
Spinal muscular atrophys

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Kang, P. B., Gooch, C. L., McDermott, M. P., Darras, B. T., Finkel, R. S., Yang, M. L., Sproule, D. M., Chung, W. K., Kaufmann, P., De Vivo, D. C., Oskoui, M., Constantinescu, A., Foley, A. R., Tawil, R., Martens, W. B., Montes, J., Battista, V., O'Hagen, J., Dunaway, S., ... Koo, B. (2014). The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle and Nerve, 49(5), 636-644. https://doi.org/10.1002/mus.23967

Kang, PB, Gooch, CL, McDermott, MP, Darras, BT, Finkel, RS, Yang, ML, Sproule, DM, Chung, WK, Kaufmann, P, De Vivo, DC, Oskoui, M, Constantinescu, A, Foley, AR, Tawil, R, Martens, WB, Montes, J, Battista, V, O'Hagen, J, Dunaway, S, Flickinger, J, Quigley, J, Riley, S, Sanborn, E, Glanzman, AM, Benton, M, Ryan, P, Punyanitya, M, Montgomery, MJ, Marra, J & Koo, B 2014, 'The motor neuron response to SMN1 deficiency in spinal muscular atrophy', Muscle and Nerve, vol. 49, no. 5, pp. 636-644. https://doi.org/10.1002/mus.23967

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abstract = "Introduction: The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA). Methods: Sixty-two children with SMA types 2 and 3 were observed prospectively for up to 42 months. Longitudinal electrophysiological data were collected, including compound motor action potential (CMAP), single motor unit action potential (SMUP), and MUNE. Results: Significant motor neuron loss and compensatory collateral reinnervation were noted at baseline. Over time, there was a significant mean increase in MUNE (4.92 units/year, P=0.009), a mean decrease in SMUP amplitude (-6.32 μV/year, P=0.10), and stable CMAP amplitude. Conclusions: The unexpected longitudinal results differ from findings in amyotrophic lateral sclerosis studies, perhaps indicating that compensatory processes in SMA involve new motor unit development. A better understanding of the mechanisms of motor unit decline and compensation in SMA is important for assessing novel therapeutic strategies and for providing key insights into disease pathophysiology.",

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AU - Kang, Peter B.

AU - Gooch, Clifton L.

AU - McDermott, Michael P.

AU - Darras, Basil T.

AU - Finkel, Richard S.

AU - Yang, Michele L.

AU - Sproule, Douglas M.

AU - Chung, Wendy K.

AU - Kaufmann, Petra

AU - De Vivo, Darryl C.

AU - Oskoui, Maryam

AU - Constantinescu, Andrei

AU - Foley, A. Reghan

AU - Tawil, Rabi

AU - Martens, William B.

AU - Montes, Jacqueline

AU - Battista, Vanessa

AU - O'Hagen, Jessica

AU - Dunaway, Sally

AU - Flickinger, Jean

AU - Quigley, Janet

AU - Riley, Susan

AU - Sanborn, Erica

AU - Glanzman, Allan M.

AU - Benton, Maryjane

AU - Ryan, Patricia

AU - Punyanitya, Mark

AU - Montgomery, Megan J.

AU - Marra, Jonathan

AU - Koo, Benjamin

PY - 2014/5

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N2 - Introduction: The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA). Methods: Sixty-two children with SMA types 2 and 3 were observed prospectively for up to 42 months. Longitudinal electrophysiological data were collected, including compound motor action potential (CMAP), single motor unit action potential (SMUP), and MUNE. Results: Significant motor neuron loss and compensatory collateral reinnervation were noted at baseline. Over time, there was a significant mean increase in MUNE (4.92 units/year, P=0.009), a mean decrease in SMUP amplitude (-6.32 μV/year, P=0.10), and stable CMAP amplitude. Conclusions: The unexpected longitudinal results differ from findings in amyotrophic lateral sclerosis studies, perhaps indicating that compensatory processes in SMA involve new motor unit development. A better understanding of the mechanisms of motor unit decline and compensation in SMA is important for assessing novel therapeutic strategies and for providing key insights into disease pathophysiology.

AB - Introduction: The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA). Methods: Sixty-two children with SMA types 2 and 3 were observed prospectively for up to 42 months. Longitudinal electrophysiological data were collected, including compound motor action potential (CMAP), single motor unit action potential (SMUP), and MUNE. Results: Significant motor neuron loss and compensatory collateral reinnervation were noted at baseline. Over time, there was a significant mean increase in MUNE (4.92 units/year, P=0.009), a mean decrease in SMUP amplitude (-6.32 μV/year, P=0.10), and stable CMAP amplitude. Conclusions: The unexpected longitudinal results differ from findings in amyotrophic lateral sclerosis studies, perhaps indicating that compensatory processes in SMA involve new motor unit development. A better understanding of the mechanisms of motor unit decline and compensation in SMA is important for assessing novel therapeutic strategies and for providing key insights into disease pathophysiology.

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The motor neuron response to SMN1 deficiency in spinal muscular atrophy

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