Presynaptic neuromuscular transmission defect in the stiff person syndrome

BACKGROUND: The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness. CASE PRESENTATIONS: We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect, who responded to ad...

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Detalles Bibliográficos
Autores principales: Lo, Y. L., Tan, Y. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134257/
https://www.ncbi.nlm.nih.gov/pubmed/27905901
http://dx.doi.org/10.1186/s12883-016-0773-2
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author Lo, Y. L.
Tan, Y. E.
author_facet Lo, Y. L.
Tan, Y. E.
author_sort Lo, Y. L.
collection PubMed
description BACKGROUND: The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness. CASE PRESENTATIONS: We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect, who responded to administration of pyridostigmine. In contrast, no electrophysiolgical evidence of neuromuscular transmission defect was demonstrated in 2 other SPS patients without fatigue symptoms. CONCLUSIONS: Our findings suggest that glutamic acid decarboxylase (GAD) antibodies may play a role in presynaptic neuromuscular transmission defect of SPS patients with fatigue.
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spelling pubmed-51342572016-12-15 Presynaptic neuromuscular transmission defect in the stiff person syndrome Lo, Y. L. Tan, Y. E. BMC Neurol Case Report BACKGROUND: The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness. CASE PRESENTATIONS: We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect, who responded to administration of pyridostigmine. In contrast, no electrophysiolgical evidence of neuromuscular transmission defect was demonstrated in 2 other SPS patients without fatigue symptoms. CONCLUSIONS: Our findings suggest that glutamic acid decarboxylase (GAD) antibodies may play a role in presynaptic neuromuscular transmission defect of SPS patients with fatigue. BioMed Central 2016-12-01 /pmc/articles/PMC5134257/ /pubmed/27905901 http://dx.doi.org/10.1186/s12883-016-0773-2 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Lo, Y. L.
Tan, Y. E.
Presynaptic neuromuscular transmission defect in the stiff person syndrome
title Presynaptic neuromuscular transmission defect in the stiff person syndrome
title_full Presynaptic neuromuscular transmission defect in the stiff person syndrome
title_fullStr Presynaptic neuromuscular transmission defect in the stiff person syndrome
title_full_unstemmed Presynaptic neuromuscular transmission defect in the stiff person syndrome
title_short Presynaptic neuromuscular transmission defect in the stiff person syndrome
title_sort presynaptic neuromuscular transmission defect in the stiff person syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134257/
https://www.ncbi.nlm.nih.gov/pubmed/27905901
http://dx.doi.org/10.1186/s12883-016-0773-2
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