Materiały źródłowe

• #1 Immune Mechanisms in Epileptogenesis: Update on Diagnosis and Treatment of Autoimmune Epilepsy Syndromes – PubMed

  https://pubmed.ncbi.nlm.nih.gov/36696027/

  Seizures and epilepsy can result from various aetiologies, yet the underlying cause of several epileptic syndromes remains unclear. […] Autoimmune-mediated pathophysiological mechanisms have been gaining attention in the past years and were included as one of the six aetiologies of seizures in the most recent classification of the International League Against Epilepsy. […] The increasing number of anti-neuronal antibodies identified in patients with encephalitic disorders has contributed to the establishment of an immune-mediated pathophysiology in many cases of unclear aetiology of epileptic syndromes. […] Given the overlapping clinical presentation of immune-mediated seizures originating from different aetiologies, a clear distinction among the aetiological entities is crucial when it comes to discussing pathophysiological mechanisms, therapeutic options, and long-term prognosis of patients.

• #2 Unraveling Autoimmune Epilepsy

  https://www.neurologylive.com/view/unraveling-autoimmune-epilepsy

  Autoimmune epilepsy is essentially a seizure disorder where a neural-specific antibody is present, may be pathogenic, and may cause seizures, said Lindsay Higdon, MD, a neurologist and epilepsy specialist at Jefferson University Hospital in Philadelphia, Pennsylvania. […] In one study, experts found that approximately 20% of unexplained epilepsy cases had evidence of circulating neural antibodies, suggesting an autoimmune cause. […] Over the past decade, several neural surface antigens and intracellular antigens have been found and documented in patients presenting with epilepsy, and in 2017, autoimmune epilepsy was officially recognized as a distinct entity by the International League Against Epilepsy. […] Patients with autoimmune epilepsy can also show characteristic MRI findings that are consistent with limbic encephalitis.

• #3 Clinical Approach to Autoimmune Epilepsy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7541993/

  This expert opinion aims to provide clinical approaches to diagnosing and treating autoimmune epilepsy. […] The two important steps to addressing autoimmune epilepsy are 1) excluding other etiologies and 2) applying empirical treatment during the diagnosis. […] The initial approach starts with a detailed history-taking and neurologic examination. The initial diagnostic workups include blood laboratory, EEG, brain MRI, and CSF studies, which include tests for CNS infection and autoantibodies. […] Autoantibody detection provides a confirmatory diagnosis of autoimmune encephalitis, and thus is recommended in all suspected patients. […] The treatment of autoimmune epilepsy can be categorized into two axes: 1) disease-modifying treatment by immunotherapy and 2) the administration of appropriate AEDs.

• #4 :: JCN :: Journal of Clinical Neurology

  https://www.thejcn.com/DOIx.php?id=10.3988/jcn.2020.16.4.519

  The two important steps to addressing autoimmune epilepsy are 1) excluding other etiologies and 2) applying empirical treatment during the diagnosis. […] Autoantibody detection provides a confirmatory diagnosis of autoimmune encephalitis, and thus is recommended in all suspected patients. […] The treatment of autoimmune epilepsy can be categorized into two axes: 1) disease-modifying treatment by immunotherapy and 2) the administration of appropriate AEDs. […] Since NORSE is an emergency condition, immunotherapy should be administered as soon as possible, preferably within hours or (at worst) days. […] The occurrence of only sporadic seizures in autoimmune epilepsy will give clinicians more time to complete the differential diagnosis, and treatment and immunotherapy can be applied over days and even weeks.

• #5 :: JCN :: Journal of Clinical Neurology

  https://thejcn.com/DOIx.php?id=10.3988/jcn.2020.16.4.519

  The two important steps to addressing autoimmune epilepsy are 1) excluding other etiologies and 2) applying empirical treatment during the diagnosis. […] Autoantibody detection provides a confirmatory diagnosis of autoimmune encephalitis, and thus is recommended in all suspected patients. […] The treatment of autoimmune epilepsy can be categorized into two axes: 1) disease-modifying treatment by immunotherapy and 2) the administration of appropriate AEDs. […] Since NORSE is an emergency condition, immunotherapy should be administered as soon as possible, preferably within hours or (at worst) days. […] The occurrence of only sporadic seizures in autoimmune epilepsy will give clinicians more time to complete the differential diagnosis, and treatment and immunotherapy can be applied over days and even weeks.

• #6 Autoimmune Epilepsy

  https://practicalneurology.com/diseases-diagnoses/epilepsy-seizures/autoimmune-epilepsy/30185/

  A newly recognized category of epilepsy caused by or associated with antibodies. Currently, no strict diagnostic guidelines exist for autoimmune epilepsy. This article seeks to provide a basic clinical approach to diagnosis and treatment. When considering a diagnosis of autoimmune epilepsy, a critical detail to keep in mind is that some antibodies target intracellar antigens, while others target neural surface antigens. Recommendations for tumor screening are antibody specific and covered later in this article, although often a specific antibody is not detected. When no specific antibody is detected, the clinical features and other test results guide diagnosis of autoimmune epilepsy, and broad cancer screening is also performed. Patients with autoimmune epilepsy typically have multifocal seizures with an unusually high (ie, daily or weekly) seizure frequency at onset and can also present in nonconvulsive status epilepticus. Typically, there is no history of epilepsy or seizure risk factors in the patients medical or family history. Seizures of autoimmune epilepsy are most commonly focal temporal lobe seizures but seizure onset is often seen elsewhere. All patients with suspected autoimmune epilepsy should have basic labs, routine EEG with or without prolonged video-EEG capturing their typical seizure types, brain MRI with and without contrast, positron emission tomography (PET), and a lumbar puncture with cerebrospinal fluid (CSF) analysis to rule out infectious etiologies. Confirmation of seizure diagnosis and localization with EEG can be helpful, although there is no pathognomonic finding to confirm autoimmune seizures. Findings from standard CSF studies that can suggest an autoimmune diagnosis include lymphocytic pleocytosis, elevated protein, and elevated oligoclonal bands or IgG index. Although positive antibody screening is helpful to confirm a diagnosis, it is thought that up to half of patients with autoimmune epilepsy will have negative antibody findings. If there is a positive antibody result, cancer screening for the most common associated cancer type should be done. Currently, no data from randomized controlled trials is available. Observational studies and clinical experience suggest that a response to immunotherapy in epilepsy (RITE) score 7 predicts a favorable response to immunotherapy. If patients worsen or there is no response within 2 weeks of a first-line therapy, second-line therapies are rituximab (1g IV) given twice 2 weeks apart or cyclophosphamide (750mg/m2 monthly up to 6 months). Early diagnosis and treatment can drastically alter the course of the disease.

• #7 Autoimmune Epilepsy

  https://practicalneurology.com/articles/2018-oct/autoimmune-epilepsy

  A newly recognized category of epilepsy caused by or associated with antibodies. Currently, no strict diagnostic guidelines exist for autoimmune epilepsy. This article seeks to provide a basic clinical approach to diagnosis and treatment. When considering a diagnosis of autoimmune epilepsy, a critical detail to keep in mind is that some antibodies target intracellar antigens, while others target neural surface antigens. Recommendations for tumor screening are antibody specific and covered later in this article, although often a specific antibody is not detected. When no specific antibody is detected, the clinical features and other test results guide diagnosis of autoimmune epilepsy, and broad cancer screening is also performed. Patients with autoimmune epilepsy typically have multifocal seizures with an unusually high (ie, daily or weekly) seizure frequency at onset and can also present in nonconvulsive status epilepticus. Typically, there is no history of epilepsy or seizure risk factors in the patients medical or family history. The diagnosis is not based on a single result but the comprehensive clinical picture. Each antibody has its unique clinical findings, cancer association, and response to treatment. Early diagnosis and treatment can drastically alter the course of the disease.

• #8 Autoimmune epilepsy – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/autoimmune-epilepsy/symptoms-causes/syc-20576892

  Autoimmune epilepsy is a type of epilepsy where seizures are caused by the immune system mistakenly attacking brain cells. […] Autoimmune epilepsy also is known as autoimmune associated epilepsy and acute symptomatic seizures secondary to autoimmune encephalitis. […] Antiseizure medicines usually don’t do enough to manage seizures in people with autoimmune epilepsy. Instead, immunotherapy medicines help reduce the immune response on the brain. […] When immunotherapy is started early, it can reduce inflammation and improve seizures. […] Autoimmune epilepsy is caused by the immune system attacking brain cells and leading to seizures. […] More recently, research has concluded that epilepsy can be an autoimmune disease. […] Autoimmune encephalitis causes a variety of symptoms, including seizures. It is the most common cause of autoimmune epilepsy. […] Autoimmune epilepsy complications can include serious seizures that last more than five minutes or occur one after another. […] Sometimes autoimmune epilepsy can lead to seizures that don’t stop with treatment.

• #9 Autoimmune Epilepsy Testing – Mayo Clinic LaboratoriesplayEpilepsyGABA-A receptor antibodies

  https://news.mayocliniclabs.com/neurology/autoimmune-neurology/epilepsy/

  Autoimmune epilepsy is increasingly recognized in the spectrum of immune-mediated neurological disorders, which can be characterized by detection of neural autoantibodies in serum or spinal fluid and responsiveness to immunotherapy. […] The advent of more sensitive and specific serological detection methods is increasingly revealing previously underappreciated autoimmune epilepsies. […] Neural autoantibodies specific for intracellular and plasma membrane antigens aid the diagnosis of autoimmune epilepsy, but no single antibody is specific for this diagnosis. […] Identifying epilepsy as autoimmune-mediated is crucial because patients may benefit from immune suppression, while traditional antiepileptic therapy may not be effective. […] Comprehensive analysis of multiple neural antibodies with known association to epilepsy.

• #10 Autoimmune Epilepsy Evaluation | Test Detail | Quest Diagnostics

  https://testdirectory.questdiagnostics.com/test/test-detail/94605/autoimmune-epilepsy-evaluation?p=r&cc=MASTER

  Autoimmune Epilepsy Evaluation – Anti-GAD65 antibodies, anti-voltage gated potassium channels (VGKC), anti-CASPR2, anti-LGI1, and anti-NMDA receptor (NR1 subunit) antibodies are found in patients with epilepsy with an acute/subacute presentation without evidence of CNS infection, toxic, metabolic, or other known cause of epilepsy, and possibly with evidence of CNS inflammation. […] This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes. […] Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

• #11 Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum – Mayo Clinic Laboratories | Neurology Catalog

  https://neurology.testcatalog.org/show/EPS2

  Epilepsy, Autoimmune is increasingly recognized in the spectrum of neurological disorders characterized by detection of neural autoantibodies in serum or spinal fluid (CSF) and responsiveness to immunotherapy. […] Neural autoantibodies specific for intracellular and plasma membrane antigens aid the diagnosis of autoimmune epilepsy, but no single antibody is specific for this diagnosis. […] Autoantibody specificities most informative for autoimmune epilepsies include leucine-rich glioma inactivated protein-1 (LGI1), glutamic acid decarboxylase-65 (GAD65), N-methyl-D-aspartate receptor (NMDA-R), alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPA-R), and gamma-aminobutyric acid type B receptor (GABA-B-R) antibodies. […] Suspicion for autoimmune epilepsy on clinical grounds justifies comprehensive evaluation of CSF and serum for neural autoantibodies.

• #12 MRI Findings in Autoimmune Voltage-Gated Potassium Channel Complex Encephalitis with Seizures: One Potential Etiology for Mesial Temporal Sclerosis | American Journal of Neuroradiology

  http://www.ajnr.org/content/35/1/84

  Autoimmune voltage-gated potassium channel complex encephalitis is a common form of autoimmune encephalitis. Patients with seizures due to this form of encephalitis commonly have medically intractable epilepsy and may require immunotherapy to control seizures. […] It is important that radiologists recognize imaging characteristics of this type of autoimmune encephalitis and suggest it in the differential diagnosis because this seizure etiology is likely under-recognized. […] Our purpose was to characterize MR imaging findings in this patient population. […] Thirty-three of 42 patients (78.6%) demonstrated enlargement and T2 hyperintensity of mesial temporal lobe structures at some time point. […] Mesial temporal sclerosis was commonly identified (16/33, 48.5%) at follow-up imaging.

• #13 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20140514/Autoimmune-epilepsy-diagnostics-an-interview-with-Dr-Joseph-J-Higgins-Medical-Director-Neurology-Athena-Diagnostics-a-business-of-Quest-Diagnostics.aspx

  Autoimmune epilepsy requires different diagnostic techniques. […] For this disorder, in addition to imaging exams like MRI and cerebrospinal fluid, molecular tests can identify particular autoimmune markers implicated in the condition through a blood test. […] To identify autoimmune epilepsy, patients are also screened for a broad range of neural autoantibodies while MRI and cerebrospinal fluid testing may help identify inflammatory changes. […] We have just released a multi-analyte panel to enable the physician to streamline the evaluation of a patient based on the presence of antibodies well correlated in the literature with autoimmune epilepsy. […] It is the first clinically available multi-analyte test to identify five antibodies correlated with autoimmune epilepsy in the United States.

• #14 Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid – Mayo Clinic Laboratories | Neurology Catalog

  https://neurology.testcatalog.org/show/EPC2

  Test ID: EPC2 Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid […] Autoimmune epilepsy is increasingly recognized in the spectrum of neurological disorders characterized by detection of neural autoantibodies in serum or spinal fluid (CSF) and responsiveness to immunotherapy. The advent of more sensitive and specific serological detection methods is increasingly revealing previously underappreciated autoimmune epilepsies. Neural autoantibodies specific for intracellular and plasma membrane antigens aid the diagnosis of autoimmune epilepsy, but no single antibody is specific for this diagnosis. […] Suspicion for autoimmune epilepsy on clinical grounds justifies comprehensive evaluation of CSF and serum for neural autoantibodies. Selective testing for individual autoantibodies is not advised because each is individually rare, and a timely diagnosis is critical. Collectively, the antibodies tested for in the autoimmune epilepsy evaluations represent a broad spectrum of treatable disorders, some of which are associated with occult cancer. Testing of CSF for autoantibodies is particularly helpful when serum testing is negative, although, in some circumstances, testing both serum and CSF simultaneously is pertinent. Testing of CSF is recommended for some antibodies (eg, NMDA-R antibody and glial fibrillary acidic protein [GFAP]-IgG) because CSF testing is more sensitive and specific. In contrast, serum testing for LGI1 antibody is more sensitive than CSF testing. Failure to detect a neural antibody does not exclude the diagnosis of autoimmune epilepsy when other clinical clues exist. A trial of immunotherapy is justifiable in those cases.

• #15 Autoimmune Epilepsy Panel, Serum | ARUP Laboratories Test Directory

  https://ltd.aruplab.com/Tests/Pub/3006204

  Autoimmune Epilepsy Panel, Serum […] Use to evaluate new acute-to subacute-onset epilepsy and incomplete seizure control of 2 years. […] Testing in both serum and CSF is recommended to maximize diagnostic yield; refer to Autoimmune Epilepsy Panel, CSF (3006205) for CSF testing. […] If NMDA antibody IgG is positive, then titer will be performed. Additional charges apply. […] If CV2 antibody IgG is positive, then titer will be added. Additional charges apply. […] PCCA/ANNA antibody IgG is screened by IFA. If the IFA screen is indeterminate, then a Neuronal Nuclear Antibodies (Hu, Ri, Yo, and Tr/DNER) IgG by Immunoblot will be performed. […] If LGI1 antibody IgG is positive, then titer will be added. Additional charges apply. […] If CASPR2 antibody IgG is positive, then titer will be added. Additional charges apply.

• #16 Autoimmune Epilepsy Panel, Serum and CSF | Test Fact Sheet

  https://arupconsult.com/ati/autoimmune-epilepsy-panel

  It is important to note that autoimmune epilepsy may exist in the absence of detectable, known antineural antibodies, and empiric immunotherapy trials may be considered in the appropriate clinical context. […] These serum and CSF antineural antibody panel tests can be used for the evaluation of patients with a neurologic phenotype consisting predominantly of new, acute to subacute onset of epilepsy that is refractory to more than two antiseizure medications. […] Testing for the presence of antineural antibodies in both serum and CSF is recommended to improve diagnostic yield. […] Results must be interpreted in the clinical context of the individual patient; test results (positive or negative) should not supersede clinical judgment. […] A diagnosis of autoimmune epilepsy is not excluded.

• #17 Autoimmune Epilepsy: Symptoms, Causes, Diagnosis, Treatment

  https://www.healthline.com/health/epilepsy/autoimmune-epilepsy

  Although testing positive for autoantibodies is highly suggestive of autoimmune epilepsy, they cannot be detected in up to half of people. […] The main treatment for autoimmune epilepsy is a combination of anti-epileptic drugs to stop seizures and immunotherapy to reduce inflammation in your brain. […] An early initiation of immunotherapy is associated with a favorable outcome. […] Autoimmune epilepsy is a group of conditions that cause recurrent seizures due to brain inflammation caused by an autoimmune reaction.

• #18 Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum – Mayo Clinic Laboratories | Neurology Catalog

  https://neurology.testcatalog.org/show/EPS2

  Selective testing for individual autoantibodies is not advised because each is individually rare, and a timely diagnosis is critical. […] Testing of CSF for autoantibodies is particularly helpful when serum testing is negative, although, in some circumstances, testing both serum and CSF simultaneously is pertinent. […] Failure to detect a neural antibody does not exclude the diagnosis of autoimmune epilepsy when other clinical clues exist. A trial of immunotherapy is justifiable in those cases.

• #19 Identification and Treatment of Autoimmune Epilepsy – Contemporary Advances in Epilepsy

  https://www.medpagetoday.com/resource-centers/contemporary-advances-epilepsy/identification-and-treatment-autoimmune-epilepsy/2088

  The Dubey group has now proven some of these clinical features on a prospective level. […] As part of their study, Dubey et al. created a 9-item, 15-point index—the APE index—that encompasses all of the clinical factors described above along with others, such as cerebrospinal fluid findings indicative of inflammation, seizures refractory to at least 2 antiseizure medications, and the presence of underlying malignancy. […] The team prospectively assigned a score to each patient in the study to estimate the probability of an autoimmune etiology prior to knowing the antibody test results. […] They found that applying an APE score threshold of 4 or higher proved to be quite effective at distinguishing those patients with positive serology from those with negative serology (83% vs 19%; P < .001).

• #20 Unraveling Autoimmune Epilepsy

  https://www.neurologylive.com/view/unraveling-autoimmune-epilepsy

  To help clinicians make an early and accurate clinical diagnosis, Divyanshu Dubey, MBBS, and a team of investigators at Mayo Clinic have developed and validated a predictive tool. […] The APE (Antibody Prevalence in Epilepsy of unknown etiology) score takes into consideration the onset and progression of the seizure disorder, clinical signs, and MRI and cerebrospinal fluid (CSF) findings. […] One of the main hallmarks of autoimmune epilepsy is that it is generally resistant to antiepileptic drugs. […] In a systematic review of 6 studies that included 169 patients with autoimmune epilepsy, antiepileptic drugs were effective in only 10.7% of cases. […] Once the cause is known, it makes sense to treat autoimmune epilepsy just like other autoimmune diseases by modulating the immune system.

• #21 Identification and Treatment of Autoimmune Epilepsy – Contemporary Advances in Epilepsy

  https://www.medpagetoday.com/resource-centers/contemporary-advances-epilepsy/identification-and-treatment-autoimmune-epilepsy/2088

  If using this APE score threshold to select patients for antibody testing in the clinic, the results translate into 82% specificity and 83% sensitivity. […] Dr. Irani notes that the APE score largely captures patients with autoimmune encephalitis. […] Patients who have limited other features should be designated as having autoimmune epilepsy, because it will enhance their diagnosis and clinicians won’t be waiting for them to be neuropsychiatrically impaired or have an MRI change. […] Of the 23 patients in the study who were seropositive, 15 (65%) received some form of immunomodulatory therapy. […] Good seizure outcomes (ie, a >50% reduction in seizure frequency at the first follow-up visit) were strongly tied to the use of immunomodulatory therapy, particularly intravenous methylprednisolone or plasmapheresis.

• #22 Unraveling Autoimmune Epilepsy

  https://www.neurologylive.com/view/unraveling-autoimmune-epilepsy

  While antibodies to neural surface antigens (such as LGI1 and CASPR2) may respond well to immunotherapy, antibodies to intracellular antigens (like GAD-65) are less responsive, she said. […] To predict which patients are more likely to respond to immunotherapy, Dubey and his team have also introduced and validated the RITE (Response to Immunotherapy in Epilepsy) score. […] Patients with a RITE score greater than 7 are more likely to respond to immunotherapy. […] Most experts feel that a better understanding of the pathophysiology of autoimmune epilepsy is the way forward.

• #23 Autoimmune epilepsy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/autoimmune-epilepsy/diagnosis-treatment/drc-20576912

  An autoimmune epilepsy diagnosis begins with a physical exam and a review of your symptoms. […] Testings for autoimmune epilepsy includes lab tests, brain imaging and testing the electrical activity in the brain. […] Lab tests check for antibodies in the immune system that are attacking brain cells and causing seizures. […] Healthcare professionals test for antibodies by testing your blood or the fluid that surrounds your brain and spinal cord, known as cerebrospinal fluid. […] An MRI of your brain can look for signs of autoimmune epilepsy. […] An electroencephalogram is a test that measures electrical activity in the brain. […] This test may show seizure activity and can help diagnose autoimmune epilepsy. […] Autoimmune epilepsy treatment differs from the treatment used for other types of epilepsy.

• #24 Autoimmune epilepsy: Symptoms, causes, and treatment

  https://www.medicalnewstoday.com/articles/autoimmune-epilepsy

  Autoimmune epilepsy is a rare type of epilepsy that occurs as a result of an immune system imbalance. It develops due to immune antibodies targeting the brain. […] Autoimmune epilepsy refers to several types of epilepsy that occur when the immune system attacks specific areas of the brain and causes seizures with certain symptoms. […] A 2020 study defined that autoimmune epilepsy refers to different diseases, but they all cause chronic seizures and the ongoing presence of antibodies that target brain proteins. […] The specific type of autoimmune epilepsy diagnosis considers the brain region the immune system is attacking, the symptoms that present, and the receptors involved. […] If a healthcare professional believes a person may have autoimmune epilepsy, they may recommend the following tests, but the diagnosis can be difficult: blood tests to rule out other conditions, such as liver disease or systemic infection; an electroencephalogram (EEG), a video EEG may be more helpful in recording an individuals typical seizures; brain MRI scans however, results are often normal, especially early on in disease progression; PET scans; spinal tap, which can allow a doctor to look for particular antibodies in the cerebrospinal fluid around the brain.

• #25 Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders

  https://www.e-jmd.org/journal/view.php?number=394

  Brain magnetic resonance imaging (MRI) findings are typically normal, but they may show hyperintense unilateral or bilateral T2/fluid-attenuated inversion recovery (FLAIR) signals in the mesial temporal lobes and restricted diffusion relative to normal. […] 18F FDG-PET may be more sensitive than brain MRI, and the presence of some antibodies may be associated with specific metabolic patterns. […] The first-line therapy is intravenous (IV) methylprednisolone at a dosage of 1 g for 35 days, which has efficacy due to wide function for immunosuppression as well as T-cell depletion, followed by oral prednisolone; IV immunoglobulin (IVIg) at a dosage of 0.4 g/kg for 5 days; and/or plasmapheresis. […] If patients are highly suspected of autoimmune-mediated encephalitis by classical onconeuronal antibodies, methylprednisolone or other T-cell-directed therapies are preferred options over IVIg or plasmapheresis.

• #25 Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders

  https://www.e-jmd.org/journal/view.php?number=394

  Movement disorders are common manifestations in autoimmune-mediated encephalitis. […] Early diagnosis and treatment, especially for autoantibodies targeting neuronal surface antigens, can improve prognosis. […] Diagnosing these disorders as early as possible is crucial because some antibodies are associated with occult neoplasia, which is potentially treatable. […] The diagnosis of autoimmune-mediated autoantibodies is challenging in clinical practice. […] If patients present with variable movement manifestations, especially combined movement disorders, neuronal surface antibodies are more likely. […] Cerebral spinal fluid (CSF) may exhibit pleocytosis, which could be misdiagnosed as virus-related encephalitis. […] Electroencephalograms (EEGs) often reveal diffuse slow wave activity, epileptiform discharge, or even status epilepticus.

• #26 The Laboratory Diagnosis of Autoimmune Encephalitis

  https://www.j-epilepsy.org/journal/view.php?viewtype=pubreader&number=113

  The Ab tests using both CSF and serum are necessary and CSF sometimes reflects disease activity. […] The Ab test can be negative even in the presence of autoimmune encephalitis. […] EEG was abnormal in 90% of cases of anti-NMDAR encephalitis. […] A unilateral or bilateral medial temporal T2 high signal is a common finding in MRI. […] FDG-PET is sometimes useful as a diagnostic tool in patients with a normal MRI, and exhibit medial temporal hypo- or hypermetabolism and basal ganglia hypermetabolism in anti-LGI1 encephalitis.

• #27 Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders

  https://www.e-jmd.org/journal/view.php?number=394

  If a patient’s major symptom is subacute onset ataxia and suspected opsoclonus-myoclonus syndrome, clinicians may consider antibodies targeting intracellular nuclear antigens. […] Anti-NMDA receptor encephalitis is a well-known type of autoimmune-mediated encephalitis. […] The most common movement disorders are dystonia, stereotypies, and chorea. […] CSF analyses have revealed a rate of lymphocyte pleocytosis of 68%98%, normal to mildly elevated protein levels, and oligoclonal bands (OCB) in 50%60% of patients. […] Anti-NMDA receptor antibodies can be found in CSF with a higher sensitivity than in serum, and a higher titer may yield a poorer outcome. […] The most characteristic presentation in anti-NMDA receptor encephalitis is extreme delta brush, which is associated with poor recovery. […] Early immunotherapy can yield favorable outcomes and may also prevent limbic encephalitis.

• #28

  https://link.springer.com/article/10.1007/s00415-024-12712-7

  We aim to close this gap by investigating and comparing symptoms, signs, and paraclinical test results of AE and IE patients treated at three neurology departments of university hospitals within a 10-year period in a combined retro- and prospective approach. Furthermore, we develop a statistical tool to discriminate between AE and IE early in the course of the disease. […] Acute symptomatic seizures occurred more frequently in AE compared to IE. […] Epileptic discharges and/or ictal patterns were more commonly found in AE compared to IE. […] We integrate six readily accessible clinical and CSF parameters (impairment of consciousness, acute symptomatic seizures, headache, fever, and CSF pleocytosis including leukocyte count) into a discriminative model for timely differentiation between AE and IE and provide a calculation tool for respective diagnostic probabilities. This tool will support clinicians in early decision making as to the therapeutic approach.

• #28

  https://link.springer.com/article/10.1007/s00415-024-12712-7

  Encephalitis originates from diverse autoimmune and infectious etiologies. Diagnostic challenges arise due to the spectrum of presentation and the frequent absence of specific biomarkers. This study aimed to comprehensively characterize and differentiate autoimmune encephalitis (AE) from infectious encephalitis (IE) in adults, and disentangle clinical, paraclinical, and therapeutic differences. […] The diagnosis of autoimmune encephalitis (AE) may prove challenging due to a high rate of unremarkable magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) analyses. Furthermore, approximately 50% of all AE patients are considered antibody-negative. […] This comprehensive analysis provides insights into the epidemiology, clinical, paraclinical, and therapeutic aspects and the outcomes of AE and IE in adults. We developed a diagnostic tool that facilitates early differentiation between AE and IE, aiding in timely therapeutic decision-making.

• #29 Autoimmune epilepsy, retrospective case series of clinical features, management, and outcomes | Neurosciences Journal

  https://nsj.org.sa/content/28/4/264

  Important diagnostic tools such as cerebrospinal fluid and serum analysis for the detection of neural-specific autoantibodies can facilitate the establishment of an accurate diagnosis and inform treatment strategies. […] Several autoantibodies have been associated with autoimmune epilepsy, including those targeting neuronal intracellular antigens or neuronal cell surface antigens. […] Upon clinical suspicion of autoimmune epilepsy, CSF analysis and comprehensive neural autoantibody screening are indicated. However, testing for selective autoantibodies is not advised, given the lack of a definitive link between any single neural antibody and seizures. Importantly, the absence of neural antibodies does not exclude a diagnosis of autoimmune epilepsy if other clinical indicators are present.

• #30 Autoimmune Encephalitis: A Physician’s Guide to the Clinical Spectrum Diagnosis and Management

  https://www.mdpi.com/2076-3425/12/9/1130

  The diagnosis of autoimmune encephalitis can be challenging due to the wide spectrum of clinical presentations, prevalence of psychiatric features that mimic primary psychiatric illnesses, frequent absence of diagnostic abnormalities on conventional brain MR-imaging, non-specific findings on EEG testing, and the lack of identified IgG class neuronal autoantibodies in blood or CSF in a subgroup of patients. […] Thus, the diagnosis requires a high index of clinical suspicion after reasonable exclusion of alternative causes and a lower threshold to test paired CSF/serum for confirmation of the presence of neuronal autoantibodies, particularly in those with red flags suggestive of underlying autoimmunity. […] The challenge of establishing a diagnosis is greatest in those cases where neuronal autoantibodies are not identified in the CSF, despite a very high index of clinical suspicion and a reasonable exclusion of alternative etiologies including infectious etiologies, rheumatologic causes, toxic-metabolic disturbances, vascular disorders, neoplastic diseases, rapidly progressive neurodegenerative diseases, primary psychiatric illnesses, mitochondrial disorders, metabolic diseases, and medication-related syndromes.

• #30 Autoimmune Encephalitis: A Physician’s Guide to the Clinical Spectrum Diagnosis and Management

  https://www.mdpi.com/2076-3425/12/9/1130

  The diagnosis of autoimmune encephalitis usually follows the 2016 autoimmune encephalitis criteria by Graus et al. […] The diagnosis can be made when all three of the following criteria have been met: subacute onset of working memory deficits, altered mental status, or psychiatric symptoms; at least one of the following: seizures not explained by a previously known seizure disorder, CSF pleocytosis, MRI features suggestive of encephalitis, or new focal CNS findings; reasonable exclusion of alternative causes.

• #31 Seizures, Epilepsy, and NORSE Secondary to Autoimmune Encephalitis: A Practical Guide for Clinicians

  https://www.mdpi.com/2227-9059/11/1/44

  AE is defined by clinical criteria which comprise the subacute onset of memory deficits, altered mental status, and psychiatric disorders in association with either new focal findings, seizures, CSF pleocytosis or findings consistent with encephalitis on brain MRI. […] Several advances have also been made in the field of paraneoplastic disorders, where a new set of diagnostic criteria have been recently developed to enhance the clinical care of patients and to increase diagnostic specificity. […] Prompt recognition of an autoimmune origin of seizures has relevant therapeutic implications. […] Because of this, several criteria and scoring systems for autoimmune seizures and epilepsy have been proposed. […] Brain MRI is an invaluable paraclinical test which aids in the differential diagnosis and often shows inflammatory alterations in patients with AE.

• #32 :: JCN :: Journal of Clinical Neurology

  https://www.thejcn.com/DOIx.php?id=10.3988/jcn.2020.16.4.519

  Early empirical immunotherapy should be actively considered for these patients. However, since there is always a risk of prescribing empirical immunotherapy to patients without autoimmune encephalitis, the importance of a thorough clinical evaluation and the exclusion of alternative diagnoses cannot be overemphasized. […] Considerable progress has been made in the field of autoimmune epilepsy since the discovery of autoimmune encephalitis. In particular, the introduction of various immunotherapy options has made some cases of the disease curable. However, the diagnosis still depends heavily on the individual judgment of the clinician, with autoantibody confirmation tests results being negative in more than half of the patients, and thus requiring this type of diagnosis. In this context, empirical immunotherapy is simultaneously a therapeutic method and a part of the diagnostic approach for autoimmune epilepsy.

• #33 Seizures, Epilepsy, and NORSE Secondary to Autoimmune Encephalitis: A Practical Guide for Clinicians

  https://www.mdpi.com/2227-9059/11/1/44

  EEG plays a relevant role in the management of AE. […] Screening for an underlying cancer should be performed in all patients with AE and needs to be guided by the associated Ab or clinical syndrome. […] When alternative etiologies are excluded and a strong suspicion of AE is present, first-line immunotherapies should be considered early, before receiving Ab results. […] ASMs are commonly prescribed in patients affected by AE, despite the characteristic drug resistance reported in this setting. […] The majority of patients with acute symptomatic seizures secondary to AE do not develop autoimmune-associated epilepsy, justifying gradual ASMs tapering after the acute phase in most seizure-free patients lacking epileptic discharges on EEG examinations. […] Most patients with AE develop acute symptomatic seizures, including cases of SE and RSE. A minority of them will evolve to an autoimmune-associated epilepsy, especially those with onconeural (paraneoplastic) Abs, as well as those with GAD65 Abs.

• #34 Autoimmune Seizures – Testing and Treatment

  https://www.moleculera.com/testing-autoimmune-seizures/

  An autoimmune epilepsy diagnosis can be supported by the presence of neuronal antibodies in serum, which are most commonly directed against particular neuronal antigens. […] Testing for neural autoantibodies is an important part of the work up and diagnosis of patients with seizures of autoimmune etiology. […] The Panel can assist clinicians in diagnosing an underlying autoimmune etiology in patients with neurologic and/or psychiatric symptoms, including those with treatment-resistant seizures. […] Early diagnosis of autoimmune epilepsy is critical, as proper treatment often leads to a complete resolution of seizures.

• #35 Autoimmune epilepsy: Symptoms, causes, and treatment

  https://www.medicalnewstoday.com/articles/autoimmune-epilepsy

  Early diagnosis of autoimmune epilepsy can help increase a persons chances of stopping seizures long term. […] While autoimmune epilepsy typically does not respond well to antiseizure medications, effective treatments are available. […] Starting immunotherapy early is the best way to stop brain injury and prevent seizures in people with autoimmune epilepsy that does not link to cancer. […] Autoimmune epilepsy is a rare type of epilepsy that occurs due to the immune system attacking specific proteins in the brain, leading to seizures. The types include autoimmune limbic encephalitis, FIRES, and epilepsy induced by systemic autoimmune disorders. […] Common symptoms include frequent seizures, mood changes, memory issues, and personality changes. To treat autoimmune epilepsy, doctors use steroid medications and immunotherapy to address the underlying autoimmune response.

• #36 Autoimmune-associated epilepsy in an outpatient epilepsy clinic: A retrospective study | Neurology perspectives

  https://www.elsevier.es/en-revista-neurology-perspectives-17-avance-resumen-autoimmune-associated-epilepsy-in-an-outpatient-S2667049623001291

  The main objective of this study is to analyse cases in which AAEp was suspected in the outpatient epilepsy clinic of Cruces University Hospital (CUH), a national epilepsy referral centre in Spain, between 2014 and 2021. Primary aims of the study were to determine how many patients with clinical suspicion were finally diagnosed with AAEp and to analyse differences according to autoimmune test results and response to immunotherapy. Understanding these differences could lead to better and earlier identification of patients with AAEp. […] A total of 30 patients were included: 18 women (60%); mean age 28.2 years at seizure-onset. AAEp was diagnosed in 14 (46.6%), on the basis of antineuronal antibodies, CSF pleocytosis/OCB (oligoclonal bands), MRI with neuroinflammation, and/or PET hypermetabolism. Thirteen patients (43.3%) received immunotherapy, of whom 5 responded (38.4%). Delay between epilepsy-onset and autoimmune testing was longer in patients with negative autoimmune-testing and in non-responders. Viral prodrome, associated neurological signs/symptoms and MRI showing neuroinflammation were more common in responders. Diagnosis and treatment delay were longer in AAEp than in ASS-AEn. […] Isolated/chronic AAEp is a rare, drug-resistant epileptic disorder. Early diagnosis is essential for immunotherapy. However, diagnostic and therapeutic delay is longer in AAEp than in ASS-AEn. This may indicate that currently there is less capacity to detect AAEp than ASS-AEn.

• #37 Autoimmune Epilepsy – The Defeating Epilepsy Foundation

  https://www.defeatingepilepsy.org/understanding-epilepsy/autoimmune-epilepsy/

  Autoimmune epilepsy is a group of epilepsies mediated by all kinds of autoimmune reactions (Jang et. al., 2020). […] Diagnosis for autoimmune limbic encephalitis was first presented in the article, A clinical approach to diagnosis of autoimmune encephalitis, published in 2016 by Francesc Graus and colleagues of his. The diagnosis criteria, known as the Graus criteria consists of the following: […] Tests that are conducted to diagnose autoimmune epilepsy include cerebrospinal fluid analysis, neuroimaging, electroencephalogram, autoantibody tests, and brain biopsy. […] Autoantibody tests can provide a diagnosis of autoimmune encephalitis and is recommended for any patient that is suspected of having it (Jang et. al., 2020). […] The Graus criteria is used to make a diagnosis when it comes to autoimmune encephalitis.

• #38 Autoimmune Encephalitis Diagnosis | AE Alliance

  https://aealliance.org/patient-support/diagnosis/

  A diagnosis of autoimmune encephalitis (AE) is based on the presence of symptoms and findings on physical examination that are consistent with AE and test results that show inflammation in the brain. […] The diagnosis of AE is complicated because symptoms can be different in different people and because finding inflammation in the brain often requires multiple tests. Sometimes, invasive tests, such as a spinal tap or brain biopsy, are needed to confirm a diagnosis of AE or to make sure that the symptoms are not caused by another diagnosis. […] Experts have developed criteria for “possible AE”, “definite antibody-positive AE” and “probable antibody-negative AE” in adults and children. […] In adults, a diagnosis of “possible AE” is made when all three of the criteria listed below have been met: Subacute onset (rapid progression of symptoms over less than 3 months) of working memory problems (short-term memory loss), altered mental state (such as confusion or decreased ability to interact with other people or surroundings), or psychiatric symptoms (such as hallucinations).

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