ArticleBrain : a journal of neurology2019
The expanded clinical spectrum of anti-GABABR encephalitis and added value of KCTD16 autoantibodies.
Article in Brain : a journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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44 citing papers in PubMed, 109 citations in OpenAlex.
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- Novel methods for neural IgG characterization and validation in autoimmune neurologic disorders.Journal of immunological methods · 2026Review
- Screening for neuronal antibodies in cognitive impairment and dementia clinics: a prospective multicenter study.BMC neurology · 2026Article
- Case Report: Anti-GABA-B receptor encephalitis with refractory status epilepticus and favorable short-term recovery.Frontiers in immunology · 2026Article
- Anti-γ-aminobutyric acid B receptor autoimmune encephalitis: Clinical presentation and diagnostic insights.Epilepsia · 2026Article
- Diagnostic Yield of Anti-Neuronal Antibody Testing in Patients Suspected of an Infectious Encephalitis.European journal of neurology · 2025Article
- Neuronal Autoantibodies in Adults After Community-Acquired Bacterial Meningitis.Neurology(R) neuroimmunology & neuroinflammation · 2025Observational
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- Proteomic Profiling and Therapeutic Targeting of Oxidative Stress in Autoimmune Encephalitis.Journal of molecular neuroscience : MN · 2025Article
- Breast Cancer Specificities of Patients With Anti-Ri Paraneoplastic Neurologic Syndromes.Neurology(R) neuroimmunology & neuroinflammation · 2025Article
- Genetic implication of GABAFrontiers in pharmacology · 2025Review
- Recent advances in autoimmune encephalitis.Arquivos de neuro-psiquiatria · 2024Review
- Epidemiology of autoimmune encephalitis and comparison to infectious causes-Experience from a tertiary center.Annals of clinical and translational neurology · 2024Article
- Comparative Study of Paraneoplastic and Nonparaneoplastic Autoimmune Encephalitis With GABANeurology(R) neuroimmunology & neuroinflammation · 2024Article
- Anti-GABAB receptor encephalitis: clinical and laboratory characteristics, imaging, treatments and prognosis.Frontiers in immunology · 2024Article
- Management of Paraneoplastic Syndromes in the Era of Immune Checkpoint Inhibitors.Current treatment options in oncology · 2024Review
- Movement disorders in autoimmune encephalitis: an update.Journal of neurology · 2023Review
- Prevalence, Clinical Profiles, and Prognosis of Stiff-Person Syndrome in a Japanese Nationwide Survey.Neurology(R) neuroimmunology & neuroinflammation · 2023Article
- Mimics of Autoimmune Encephalitis: Validation of the 2016 Clinical Autoimmune Encephalitis Criteria.Neurology(R) neuroimmunology & neuroinflammation · 2023Article
- Utility of Protein Microarrays for Detection of Classified and Novel Antibodies in Autoimmune Neurologic Disease.Neurology(R) neuroimmunology & neuroinflammation · 2023Article
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this study we report the clinical features of 32 patients with gamma aminobutyric acid B receptor (GABABR) antibodies, identify additional autoantibodies in patients with anti-GABABR encephalitis that mark the presence of an underlying small cell lung carcinoma and optimize laboratory methods for the detection of GABABR antibodies. Patients (n = 3225) were tested for the presence of GABABR antibodies using cell-based assay, immunohistochemistry and live hippocampal neurons. Clinical data were obtained retrospectively. Potassium channel tetramerization domain-containing (KCTD)16 antibodies were identified by immunoprecipitation, mass spectrometry analysis and cell-based assays. KCTD16 antibodies were identified in 23/32 patients with anti-GABABR encephalitis, and in 1/26 patients with small cell lung carcinoma and Hu antibodies, but not in 329 healthy subjects and disease controls. Of the anti-GABABR encephalitis patients that were screened sufficiently, 18/19 (95%) patients with KCTD16 antibodies had a tumour versus 3/9 (33%) anti-GABABR encephalitis patients without KCTD16 antibodies (P = 0.001). In most cases this was a small cell lung carcinoma. Patients had cognitive or behavioural changes (97%) and prominent seizures (90%). Thirteen patients developed a refractory status epilepticus with intensive care unit admittance (42%). Strikingly, 4/32 patients had a rapidly progressive dementia. The addition of KCTD16 to the GABABR cell-based assay improved sensitivity of the in-house fixed cell-based assay, without loss of specificity. Twenty-two of 26 patients improved (partially) to immunotherapy or chemotherapy. Anti-GABABR encephalitis is a limbic encephalitis with prominent, severe seizures, but patients can also present with rapidly progressive dementia. The co-occurrence of KCTD16 antibodies points towards a paraneoplastic origin. The addition of KCTD16 improves the sensitivity of the cell-based assay.
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