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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 21, 2020 - Issue 7-8
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Brief Report

Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis

John P. Franklin1 Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UKView further author information
,
Johnathan Cooper-Knock1 Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UKView further author information
,
Aravindhan Baheerathan2 Department of Neurology, University College London Hospitals NHS Foundation Trust, London, UKView further author information
,
Tobias Moll1 Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UKView further author information
,
Roope Männikkö3 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK, andView further author information
,
Mark Heverin4 School of Medicine, Trinity College Dublin, Dublin, IrelandView further author information
,
Orla Hardiman4 School of Medicine, Trinity College Dublin, Dublin, IrelandView further author information
,
Pamela J. Shaw1 Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UKCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-8925-2567View further author information
ORCID Icon &
Michael G. Hanna2 Department of Neurology, University College London Hospitals NHS Foundation Trust, London, UK;3 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK, andView further author information
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Pages 627-630 | Received 02 Apr 2020, Accepted 17 Jun 2020, Published online: 03 Jul 2020

Figures & data

Figure 1 Schematic representation of SCN4A mutations identified in ALS patients. Clinically reported neuromuscular phenotype highlighted in boxes. Identified genetic changes within SCN4A are proposed to lead to motor neuron toxicity by one of two mechanisms: either directly via excessive membrane sodium permeability leading to hyperexcitability and ultimately excitotoxicity; or indirectly via muscle hyperexcitability leading to retrograde motor neuron toxicity.

Figure 1 Schematic representation of SCN4A mutations identified in ALS patients. Clinically reported neuromuscular phenotype highlighted in boxes. Identified genetic changes within SCN4A are proposed to lead to motor neuron toxicity by one of two mechanisms: either directly via excessive membrane sodium permeability leading to hyperexcitability and ultimately excitotoxicity; or indirectly via muscle hyperexcitability leading to retrograde motor neuron toxicity.

Figure 2 Pedigree from index case. Pedigree showing co-segregation of SCN4A p.Ser1159Pro with congenital myotonia. (shaded: congenital myotonia, crosshatch: ALS and congenital myotonia, * = SCN4A p.Ser1159Pro mutation confirmed).

Figure 2 Pedigree from index case. Pedigree showing co-segregation of SCN4A p.Ser1159Pro with congenital myotonia. (shaded: congenital myotonia, crosshatch: ALS and congenital myotonia, * = SCN4A p.Ser1159Pro mutation confirmed).
Supplemental material

Supplementary_Table_Revised.xlsx

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