Literature DB >> 23893312

The motor neuron response to SMN1 deficiency in spinal muscular atrophy.

Peter B Kang1, 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.   

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.
Copyright © 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  compound motor action potential; electrophysiology; motor neuron disease; motor unit number estimation; spinal muscular atrophy

Mesh:

Substances:

Year:  2014        PMID: 23893312      PMCID: PMC4090017          DOI: 10.1002/mus.23967

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  31 in total

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