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Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria

BACKGROUND: Stiff person spectrum disorder (SPSD) is heterogeneous, and accurate diagnosis can be challenging. METHODS: Patients referred for diagnosis/suspicion of SPSD at the Mayo Autoimmune Neurology Clinic from July 01, 2016, to June 30, 2021, were retrospectively identified. SPSD diagnosis was...

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Autores principales: Chia, Nicholas H., McKeon, Andrew, Dalakas, Marinos C., Flanagan, Eoin P., Bower, James H., Klassen, Bryan T., Dubey, Divyanshu, Zalewski, Nicholas L., Duffy, Dustin, Pittock, Sean J., Zekeridou, Anastasia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351653/
https://www.ncbi.nlm.nih.gov/pubmed/37212351
http://dx.doi.org/10.1002/acn3.51791
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author Chia, Nicholas H.
McKeon, Andrew
Dalakas, Marinos C.
Flanagan, Eoin P.
Bower, James H.
Klassen, Bryan T.
Dubey, Divyanshu
Zalewski, Nicholas L.
Duffy, Dustin
Pittock, Sean J.
Zekeridou, Anastasia
author_facet Chia, Nicholas H.
McKeon, Andrew
Dalakas, Marinos C.
Flanagan, Eoin P.
Bower, James H.
Klassen, Bryan T.
Dubey, Divyanshu
Zalewski, Nicholas L.
Duffy, Dustin
Pittock, Sean J.
Zekeridou, Anastasia
author_sort Chia, Nicholas H.
collection PubMed
description BACKGROUND: Stiff person spectrum disorder (SPSD) is heterogeneous, and accurate diagnosis can be challenging. METHODS: Patients referred for diagnosis/suspicion of SPSD at the Mayo Autoimmune Neurology Clinic from July 01, 2016, to June 30, 2021, were retrospectively identified. SPSD diagnosis was defined as clinical SPSD manifestations confirmed by an autoimmune neurologist and seropositivity for high‐titer GAD65‐IgG (>20.0 nmol/L), glycine‐receptor‐IgG or amphiphysin‐IgG, and/or confirmatory electrodiagnostic studies (essential if seronegative). Clinical presentation, examination, and ancillary testing were compared to differentiate SPSD from non‐SPSD. RESULTS: Of 173 cases, 48 (28%) were diagnosed with SPSD and 125 (72%) with non‐SPSD. Most SPSD were seropositive (41/48: GAD65‐IgG 28/41, glycine‐receptor‐IgG 12/41, amphiphysin‐IgG 2/41). Pain syndromes or functional neurologic disorder were the most common non‐SPSD diagnoses (81/125, 65%). SPSD patients more commonly reported exaggerated startle (81% vs. 56%, p = 0.02), unexplained falls (76% vs. 46%, p = 0.001), and other associated autoimmunity (50% vs. 27%, p = 0.005). SPSD more often had hypertonia (60% vs. 24%, p < 0.001), hyperreflexia (71% vs. 43%, p = 0.001), and lumbar hyperlordosis (67% vs. 9%, p < 0.001) and less likely functional neurologic signs (6% vs. 33%, p = 0.001). SPSD patients more frequently had electrodiagnostic abnormalities (74% vs. 17%, p < 0.001), and at least moderate symptomatic improvement with benzodiazepines (51% vs. 16%, p < 0.001) or immunotherapy (45% vs. 13% p < 0.001). Only 4/78 non‐SPSD patients who received immunotherapy had alternative neurologic autoimmunity. INTERPRETATION: Misdiagnosis was threefold more common than confirmed SPSD. Functional or non‐neurologic disorders accounted for most misdiagnoses. Clinical and ancillary testing factors can reduce misdiagnosis and exposure to unnecessary treatments. SPSD diagnostic criteria are suggested.
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spelling pubmed-103516532023-07-18 Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria Chia, Nicholas H. McKeon, Andrew Dalakas, Marinos C. Flanagan, Eoin P. Bower, James H. Klassen, Bryan T. Dubey, Divyanshu Zalewski, Nicholas L. Duffy, Dustin Pittock, Sean J. Zekeridou, Anastasia Ann Clin Transl Neurol Research Articles BACKGROUND: Stiff person spectrum disorder (SPSD) is heterogeneous, and accurate diagnosis can be challenging. METHODS: Patients referred for diagnosis/suspicion of SPSD at the Mayo Autoimmune Neurology Clinic from July 01, 2016, to June 30, 2021, were retrospectively identified. SPSD diagnosis was defined as clinical SPSD manifestations confirmed by an autoimmune neurologist and seropositivity for high‐titer GAD65‐IgG (>20.0 nmol/L), glycine‐receptor‐IgG or amphiphysin‐IgG, and/or confirmatory electrodiagnostic studies (essential if seronegative). Clinical presentation, examination, and ancillary testing were compared to differentiate SPSD from non‐SPSD. RESULTS: Of 173 cases, 48 (28%) were diagnosed with SPSD and 125 (72%) with non‐SPSD. Most SPSD were seropositive (41/48: GAD65‐IgG 28/41, glycine‐receptor‐IgG 12/41, amphiphysin‐IgG 2/41). Pain syndromes or functional neurologic disorder were the most common non‐SPSD diagnoses (81/125, 65%). SPSD patients more commonly reported exaggerated startle (81% vs. 56%, p = 0.02), unexplained falls (76% vs. 46%, p = 0.001), and other associated autoimmunity (50% vs. 27%, p = 0.005). SPSD more often had hypertonia (60% vs. 24%, p < 0.001), hyperreflexia (71% vs. 43%, p = 0.001), and lumbar hyperlordosis (67% vs. 9%, p < 0.001) and less likely functional neurologic signs (6% vs. 33%, p = 0.001). SPSD patients more frequently had electrodiagnostic abnormalities (74% vs. 17%, p < 0.001), and at least moderate symptomatic improvement with benzodiazepines (51% vs. 16%, p < 0.001) or immunotherapy (45% vs. 13% p < 0.001). Only 4/78 non‐SPSD patients who received immunotherapy had alternative neurologic autoimmunity. INTERPRETATION: Misdiagnosis was threefold more common than confirmed SPSD. Functional or non‐neurologic disorders accounted for most misdiagnoses. Clinical and ancillary testing factors can reduce misdiagnosis and exposure to unnecessary treatments. SPSD diagnostic criteria are suggested. John Wiley and Sons Inc. 2023-05-22 /pmc/articles/PMC10351653/ /pubmed/37212351 http://dx.doi.org/10.1002/acn3.51791 Text en © 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Research Articles
Chia, Nicholas H.
McKeon, Andrew
Dalakas, Marinos C.
Flanagan, Eoin P.
Bower, James H.
Klassen, Bryan T.
Dubey, Divyanshu
Zalewski, Nicholas L.
Duffy, Dustin
Pittock, Sean J.
Zekeridou, Anastasia
Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria
title Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria
title_full Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria
title_fullStr Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria
title_full_unstemmed Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria
title_short Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria
title_sort stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351653/
https://www.ncbi.nlm.nih.gov/pubmed/37212351
http://dx.doi.org/10.1002/acn3.51791
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