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

Autor: Nicholas H. Chia, Andrew McKeon, Marinos C. Dalakas, Eoin P. Flanagan, James H. Bower, Bryan T. Klassen, Divyanshu Dubey, Nicholas L. Zalewski, Dustin Duffy, Sean J. Pittock, Anastasia Zekeridou
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Annals of Clinical and Translational Neurology, Vol 10, Iss 7, Pp 1083-1094 (2023)
Druh dokumentu: article
ISSN: 2328-9503
05944821
DOI: 10.1002/acn3.51791
Popis: Abstract 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
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