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Neurology Genetics
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August 2018; 4 (4) ArticleOpen Access

SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology

Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
First published July 20, 2018, DOI: https://doi.org/10.1212/NXG.0000000000000255
Ryan Castoro
From the Department of Physical Medicine and Rehabilitation (R.C.), Vanderbilt University Medical Center; Department of Neurology (M.S., V.R., D.H., C.L., J.L.), Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University Medical Center; Division of Rheumatology (J.S.), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (L.Z.), University of Texas Southwestern Medical Center, Dallas, TX.
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Megan Simmons
From the Department of Physical Medicine and Rehabilitation (R.C.), Vanderbilt University Medical Center; Department of Neurology (M.S., V.R., D.H., C.L., J.L.), Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University Medical Center; Division of Rheumatology (J.S.), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (L.Z.), University of Texas Southwestern Medical Center, Dallas, TX.
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Vignesh Ravi
From the Department of Physical Medicine and Rehabilitation (R.C.), Vanderbilt University Medical Center; Department of Neurology (M.S., V.R., D.H., C.L., J.L.), Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University Medical Center; Division of Rheumatology (J.S.), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (L.Z.), University of Texas Southwestern Medical Center, Dallas, TX.
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Derek Huang
From the Department of Physical Medicine and Rehabilitation (R.C.), Vanderbilt University Medical Center; Department of Neurology (M.S., V.R., D.H., C.L., J.L.), Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University Medical Center; Division of Rheumatology (J.S.), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (L.Z.), University of Texas Southwestern Medical Center, Dallas, TX.
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Christopher Lee
From the Department of Physical Medicine and Rehabilitation (R.C.), Vanderbilt University Medical Center; Department of Neurology (M.S., V.R., D.H., C.L., J.L.), Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University Medical Center; Division of Rheumatology (J.S.), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (L.Z.), University of Texas Southwestern Medical Center, Dallas, TX.
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John Sergent
From the Department of Physical Medicine and Rehabilitation (R.C.), Vanderbilt University Medical Center; Department of Neurology (M.S., V.R., D.H., C.L., J.L.), Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University Medical Center; Division of Rheumatology (J.S.), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (L.Z.), University of Texas Southwestern Medical Center, Dallas, TX.
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Lan Zhou
From the Department of Physical Medicine and Rehabilitation (R.C.), Vanderbilt University Medical Center; Department of Neurology (M.S., V.R., D.H., C.L., J.L.), Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University Medical Center; Division of Rheumatology (J.S.), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (L.Z.), University of Texas Southwestern Medical Center, Dallas, TX.
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Jun Li
From the Department of Physical Medicine and Rehabilitation (R.C.), Vanderbilt University Medical Center; Department of Neurology (M.S., V.R., D.H., C.L., J.L.), Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University Medical Center; Division of Rheumatology (J.S.), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (L.Z.), University of Texas Southwestern Medical Center, Dallas, TX.
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Citation
SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
Neurol Genet Aug 2018, 4 (4) e255; DOI: 10.1212/NXG.0000000000000255

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Abstract

Objective The SCN11A gene encodes the NaV1.9 sodium channel found exclusively in peripheral nociceptive neurons.

Methods All enrolled participants were evaluated clinically by electrophysiologic studies, DNA sequencing, and punch skin biopsies.

Results All affected family members are afflicted by episodes of pain. Pain was predominantly nociceptive, but not neuropathic in nature, which led a diagnosis of fibromyalgia in some patients. All patients had normal findings in nerve conduction studies for detecting large nerve fiber neuropathies and skin biopsies for detecting small nerve fiber pathology.

Conclusions Unlike those patients with missense mutations in SCN11A, small fiber sensory neuropathy, and neuropathic pain, the Arg225Cys SCN11A in the present study causes predominantly nociceptive pain with minimal features of neuropathic pain and undetectable pathophysiologic changes of peripheral neuropathy. This finding is consistent with dysfunction of nociceptive neurons. In addition, since nociceptive pain in patients has led to the diagnosis of fibromyalgia, this justifies a future search of mutations of SCN11A in patients with additional pain phenotypes such as fibromyalgia to expand the clinical spectrum beyond painful small fiber sensory neuropathy.

Glossary

ALS=
amyotrophic lateral sclerosis;
CMT=
Charcot-Marie-Tooth;
CMTES=
CMT Examination Score;
CMTNS=
CMT neuropathy score;
DP=
diabetic polyneuropathy;
EPS=
episodic pain syndrome;
IRB=
institutional review board;
NCS=
nerve conduction study;
RAPS=
Rheumatoid Arthritis Pain Scale

Footnotes

  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NG.

  • The Article Processing Charge was funded by NIH grant.

  • Received February 14, 2018.
  • Accepted in final form May 21, 2018.
  • Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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