ReviewNature reviews. Neurology2024
Stiff-person syndrome and related disorders - diagnosis, mechanisms and therapies.
Review in Nature reviews. Neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 3 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
46 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Comorbid autoimmune disease in stiff-person syndrome spectrum disorder: a systematic review and meta-analysis.Journal of neurology · 2026Pooled it
- Systematic Review of Immune and Symptomatic Treatments for Stiff-Person Syndrome.European journal of neurology · 2025Pooled it
- Progressive Encephalomyelitis With Rigidity and Myoclonus With Glycine Receptor Antibodies: Clinical Features and Outcomes.Neurology(R) neuroimmunology & neuroinflammation · 2025Pooled it
- [Clinical spectrum, neuroimaging and therapeutic response to neurological syndromes associated with anti-GAD65].Revista medica del Instituto Mexicano del Seguro Social · 2026Review
- Triple islet autoantibody-positive type 1 diabetes in Japanese stiff-person syndrome despite a protective HLA haplotype.JCEM case reports · 2026Article
- Stiff Person Syndrome: Bridging Neuroimmunology and Rehabilitation for Improved Patient Outcomes.Archives of internal medicine research · 2026Article
- The Céline Dion Effect: high-profile public announcements and the epidemiology of stiff-person syndrome.Journal of neurology · 2026Article
- Synaptophysin autoantibodies mediate synaptic dysfunction in cerebellar ataxia.Cell reports. Medicine · 2026Article
- Occurrence and Mortality of Stiff Person Syndrome in Denmark.Neuroepidemiology · 2026Article
- Benzothiazole Derivatives as Dual Modulators of PGE2 and GABAergic Signaling in Skeletal Muscle.bioRxiv : the preprint server for biology · 2026Article
- CAR T cell therapy shows promise for treatment of stiff person syndrome.Nature reviews. Neurology · 2026Article
- 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
- Fractures beyond spasms: Progressive encephalomyelitis with rigidity and myoclonus associated with GABA-linked bone fragility.eNeurologicalSci · 2026Article
- Stiff-person syndrome with concurrent Graves disease: a rare autoimmune overlap.JCEM case reports · 2026Article
- Immune cell profiling reveals expanded stem cell-like memory T cells in anti-GAD65-associated neurological syndromes.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- CAR T cell therapy in autoantibody-mediated neurological disorders: a promising strategy.Journal of neuroinflammation · 2026Review
- Stiff-person syndrome following west nile virus infection in an immunocompromised patient.Journal of neurology · 2026Article
- Polycythemia vera and stiff-person syndrome: a case report.BMC neurology · 2026Article
- Clinical heterogeneity and immunotherapy outcomes in anti-GAD65 antibody-associated autoimmune encephalitis: a retrospective study.Therapeutic advances in neurological disorders · 2026Article
- Chimeric antigen receptor T-cell therapy in neuroimmune diseases: mechanistic rationale, clinical experience, and translational challenges.Frontiers in immunology · 2026Review
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Stiff-person syndrome (SPS) is the prototypical and most common autoimmune neuronal hyperexcitability disorder. It presents with stiffness in the limbs and axial muscles, stiff gait with uncontrolled falls, and episodic painful muscle spasms triggered by anxiety, task-specific phobias and startle responses, collectively leading to disability. Increased awareness of SPS among patients and physicians has created concerns about diagnosis, misdiagnosis and treatment. This Review addresses the evolving diagnostic challenges in SPS and overlapping glutamic acid decarboxylase (GAD) antibody spectrum disorders, highlighting the growing number of overdiagnoses and focusing on the progress made in our understanding of SPS pathophysiology, antibodies against GAD and other inhibitory synaptic antigens, and the fundamentals of neuronal hyperexcitability. It considers the role of impaired GABAergic or glycinergic inhibition in the cortex and at multiple levels in the neuraxis; the underlying autoimmunity and involvement of GAD antibodies; immunopathogenic mechanisms beyond antibodies, including environmental triggers; familial and immunogenetic susceptibility; and potential T cell cytotoxicity. Finally, the mechanistic rationale for target-specific therapeutic interventions is presented along with the available therapeutic approaches, including enhancers of GABA signalling drugs and immunotherapies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.