ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2022
Stiff-person Syndrome and GAD Antibody-spectrum Disorders: GABAergic Neuronal Excitability, Immunopathogenesis and Update on Antibody Therapies.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.
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Who cites it
65 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- Pediatric stiff-person syndrome and related disorders: A systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Pooled it
- Treatment-related neuroanatomical and functional consequences of hematopoietic stem cell transplantation: A comprehensive review of brain structure and function.Chinese medical journal · 2026Review
- Exteroceptive Reflexes in Stiff Person Syndrome, Other Neurological Conditions and Healthy Controls.Movement disorders clinical practice · 2026Article
- Phenotypic Spectrum, Diagnostic Challenges, and Clinical Outcomes in Stiff Person Syndrome: A Single-Center Case Series.Neurology international · 2026Article
- [Clinical spectrum, neuroimaging and therapeutic response to neurological syndromes associated with anti-GAD65].Revista medica del Instituto Mexicano del Seguro Social · 2026Review
- Stiff Person Syndrome: Bridging Neuroimmunology and Rehabilitation for Improved Patient Outcomes.Archives of internal medicine research · 2026Article
- Thymoma-associated stiff-person syndrome successfully treated with extended thymectomy: a case report.General thoracic and cardiovascular surgery cases · 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
- Case report of stiff - person syndrome and literature review.IBRO neuroscience reports · 2026Article
- Acute onset of progressive encephalomyelitis with rigidity and myoclonus complicated by paroxysmal respiratory failure: a case report.BMC neurology · 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
- Bilateral basal ganglia hyperintensity and cerebellar dysfunction in avermectin poisoning: a case report.Journal of medical case reports · 2026Article
- A dual manifestation of GAD-antibody spectrum disorder: a case of progressive encephalomyelitis with rigidity, myoclonus and autoimmune epilepsy with mesial temporal sclerosis.BMC neurology · 2026Article
- Rapid Shaking Body-A Novel Phenomenon of Anti-GAD Ab Induced Stiff Person Syndrome and its Electrophysiological Findings.Movement disorders clinical practice · 2026Article
- Case Report: Recurrent anti-glutamic acid decarboxylase 65 antibody-associated encephalitis in a child.Frontiers in immunology · 2026Article
- The effect of FcRn inhibition on overlapping autoimmune comorbidity in AChR-seropositive generalized myasthenia gravis.Frontiers in neurology · 2026Article
- Recurrent Autoimmune Encephalitis in a Patient With Autoimmune Polyendocrine Syndrome Type 1.Case reports in critical care · 2026Article
- Clinical heterogeneity and immunotherapy outcomes in anti-GAD65 antibody-associated autoimmune encephalitis: a retrospective study.Therapeutic advances in neurological disorders · 2026Article
- Stiff-Person Syndrome: Diagnostic and Therapeutic Insights Into a Rare Autoimmune Neurological Disorder.Cureus · 2025Article
- Progressive encephalomyelitis with rigidity and myoclonus initially diagnosed as an anxiety disorder associated with anti-glycine receptor antibodies: A case report.The Journal of international medical research · 2025Article
5 more citing papers are in PubMed but not listed here.
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Authors and funding
1 author at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although antibodies against Glutamic Acid Decarboxylase (GAD) were originally associated with Stiff Person Syndrome (SPS), they now denote the "GAD antibody-spectrum disorders (GAD-SD)" that include Cerebellar Ataxia, Autoimmune Epilepsy, Limbic Encephalitis, PERM and eye movement disorder. In spite of the unique clinical phenotype that each of these disorders has, there is significant overlapping symptomatology characterized by autoimmune neuronal excitability. In addition to GAD, three other autoantibodies, against glycine receptors, amphiphysin and gephyrin, are less frequently or rarely associated with SPS-SD. Very high serum anti-GAD antibody titers are a key diagnostic feature for all GAD-SD, commonly associated with the presence of GAD antibodies in the CSF, a reduced CSF GABA level and increased anti-GAD-specific IgG intrathecal synthesis denoting stimulation of B-cell clones in the CNS. Because anti-GAD antibodies from the various hyperexcitability syndromes recognize the same dominant GAD epitope, the clinical heterogeneity among GAD-SD patients remains unexplained. The paper highlights the biologic basis of autoimmune hyperexcitability connected with the phenomenon of reciprocal inhibition as the fundamental mechanism of the patients' muscle stiffness and spasms; addresses the importance of high-GAD antibody titers in diagnosis, pinpointing the diagnostic challenges in patients with low-GAD titers or their distinction from functional disorders; and discusses whether high GAD-antibodies are disease markers or pathogenic in the context of their association with reduced GABA level in the brain and CSF. Finally, it focuses on therapies providing details on symptomatic GABA-enhancing drugs and the currently available immunotherapies in a step-by-step approach. The prospects of future immunotherapeutic options with antibody therapies are also summarized.
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