ArticleAnnals of clinical and translational neurology2023
Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria.
Article in Annals of clinical and translational neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Comorbid autoimmune disease in stiff-person syndrome spectrum disorder: a systematic review and meta-analysis.Journal of neurology · 2026Pooled it
- Movement disorders with autoimmune neuromuscular origin: an overview of Isaacs' syndrome, stiff person syndrome, immune-mediated rippling muscle disease.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Stiff-Person Syndrome: A Comprehensive Review of a Rare Disease with Emphasis on Pathophysiology, Clinical Features, Diagnostic Challenges and Therapeutic Advances.The Yale journal of biology and medicine · 2026Review
- Long-Term Outcomes in Stiff Person Spectrum Disorder.European journal of neurology · 2026Article
- HLA Class I Haplotype in Glutamic Acid Decarboxylase Antibody-Associated Neurological Disease.European journal of neurology · 2026Article
- Stiff-person syndrome with concurrent Graves disease: a rare autoimmune overlap.JCEM case reports · 2026Article
- CAR T cell therapy in autoantibody-mediated neurological disorders: a promising strategy.Journal of neuroinflammation · 2026Review
- Review
- Rapid Shaking Body-A Novel Phenomenon of Anti-GAD Ab Induced Stiff Person Syndrome and its Electrophysiological Findings.Movement disorders clinical practice · 2026Article
- Polycythemia vera and stiff-person syndrome: a case report.BMC neurology · 2026Article
- Neurophysiological Testing to Diagnose Stiff-Person Spectrum Disorder.Movement disorders clinical practice · 2026Article
- Reply to "Neurophysiological Testing to Diagnose Stiff-Person Spectrum Disorder".Movement disorders clinical practice · 2026Article
- Sequential efgartigimod and ofatumumab for stiff-person syndrome: a case report illustrating a pathophysiology-informed strategy and literature review.Frontiers in immunology · 2026Review
- Oculomotor Abnormalities in Anti-Glutamic Acid Decarboxylase-Positive Stiff Person Syndrome.Neurology international · 2025Article
- Association of type 1 stiff-person syndrome and insulinoma: a case report and narrative review.Hormones (Athens, Greece) · 2025Review
- Binding patterns of glycine receptor autoantibodies are related to clinical syndromes.Acta neuropathologica communications · 2025Article
- Core diagnostic features of stiff person syndrome: insights from a case-control study.Journal of neurology · 2025Article
- Clinical Features and Outcomes of Glutamic Acid Decarboxylase-65 Antibody-Associated Pure Cerebellar Ataxia and Stiff Person Syndrome Spectrum Disorders: A Single-Center Cohort Study.European journal of neurology · 2025Observational
- Proposing Bromo-Epi-Androsterone (BEA) for Stiff Person Syndrome (SPS).Microorganisms · 2025Article
- Neurophysiological Insights into the Pathophysiology of Stiff-Person Spectrum Disorders.Movement disorders clinical practice · 2025Review
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
backgroundStiff person spectrum disorder (SPSD) is heterogeneous, and accurate diagnosis can be challenging.
methodsPatients 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.
resultsOf 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.
interpretationMisdiagnosis 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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