Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2016 Apr 19

PMID 27089520

Citations 15

Authors

Mohamed-Mounir El Mendili

Timothee Lenglet

Tanya Stojkovic

Anthony Behin

Raquel Guimaraes-Costa

Francois Salachas

Vincent Meininger

Gaelle Bruneteau

Nadine Le Forestier

Pascal Laforet

Stephane Lehericy

Habib Benali

Pierre-Francois Pradat

Affiliations

Soon will be listed here.

Abstract

Purpose: The mechanisms underlying the topography of motor deficits in spinal muscular atrophy (SMA) remain unknown. We investigated the profile of spinal cord atrophy (SCA) in SMN1-linked SMA, and its correlation with the topography of muscle weakness.

Materials And Methods: Eighteen SMN1-linked SMA patients type III/V and 18 age/gender-matched healthy volunteers were included. Patients were scored on manual muscle testing and functional scales. Spinal cord was imaged using 3T MRI system. Radial distance (RD) and cord cross-sectional area (CSA) measurements in SMA patients were compared to those in controls and correlated with strength and disability scores.

Results: CSA measurements revealed a significant cord atrophy gradient mainly located between C3 and C6 vertebral levels with a SCA rate ranging from 5.4% to 23% in SMA patients compared to controls. RD was significantly lower in SMA patients compared to controls in the anterior-posterior direction with a maximum along C4 and C5 vertebral levels (p-values < 10-5). There were no correlations between atrophy measurements, strength and disability scores.

Conclusions: Spinal cord atrophy in adult SMN1-linked SMA predominates in the segments innervating the proximal muscles. Additional factors such as neuromuscular junction or intrinsic skeletal muscle defects may play a role in more complex mechanisms underlying weakness in these patients.

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