Autoimmune encephalitis is a group of rare, immune-mediated disorders characterized by the production of autoantibodies that target neuronal cell surface or synaptic proteins, resulting in braininflammation and subacute neurological dysfunction. First systematically described in 2007 with the identification of anti-NMDAR encephalitis, these conditions mimic infectious encephalitis but arise from the body's misguided immune attack on healthy brain tissue, often leading to symptoms such as seizures, memory impairment, psychiatric disturbances, and altered consciousness.[1][2] Unlike traditional encephalitis caused by viruses, autoimmune forms are potentially reversible with prompt immunotherapy, though delays can result in severe complications including coma or death.[3]The most common subtype, anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, accounts for a significant portion of cases and predominantly affects young women, with an estimated annual incidence of 0.1 to 0.8 per 100,000 population.[4] It often presents with prodromal symptoms like headache or fever, progressing to prominent psychiatric features such as psychosis, agitation, or catatonia, followed by seizures, dyskinesias, and autonomic instability.[5] Other variants include anti-LGI1 and anti-CASPR2 encephalitides, which may involve limbic encephalitis with memory loss and hyponatremia, or GABAergic receptor antibodies linked to refractory seizures.[6] Paraneoplastic forms, associated with underlying tumors like ovarian teratomas (in up to 38% of anti-NMDAR cases), underscore the need for oncologic evaluation.[1]Etiologically, autoimmune encephalitis can be triggered by infections (e.g., herpes simplex virus), malignancies, or idiopathic factors, with genetic predispositions like specific HLA alleles contributing to autoantibody production.[1]Diagnosis relies on clinical presentation, cerebrospinal fluid analysis showing pleocytosis or oligoclonal bands, detection of specific autoantibodies via serum or CSF testing, electroencephalography revealing epileptiform activity, and magnetic resonance imaging that may demonstrate limbic or multifocal signal changes.[1] Early recognition is critical, as immunotherapy—typically involving corticosteroids, intravenous immunoglobulin, plasma exchange, or rituximab—can lead to substantial recovery in over 80% of patients when initiated promptly.[5] Long-term management may include tumor resection if applicable and monitoring for relapses, which occur in up to 20% of cases.[3]
Introduction
Definition and Overview
Autoimmune encephalitis (AE) is a group of immune-mediated inflammatory disorders affecting the brain parenchyma, characterized by the production of autoantibodies that target neuronal surface antigens or synaptic proteins, resulting in disrupted neuronal function and clinical manifestations of encephalopathy.[1] These autoantibodies, often of the IgG class, bind to extracellular epitopes on proteins such as ionotropic or metabotropic receptors, leading to receptor internalization, crosslinking, or blockade, which impairs synaptic transmission without causing permanent neuronal death in most cases.[7] Unlike intracellular antigen-targeted antibodies, those against surface proteins are typically associated with a more reversible course due to their direct pathogenic role in antibody-mediated mechanisms.[1]The core features of AE include an acute or subacute onset over days to weeks, frequently presenting with cognitive deficits, behavioral changes, or seizures, and a potential for substantial recovery with prompt immunotherapy such as corticosteroids, intravenous immunoglobulin, or plasma exchange.[7] In certain subtypes, known as paraneoplastic AE, the condition arises in association with underlying tumors, such as ovarian teratomas in anti-NMDAR encephalitis, where tumor removal can enhance treatment response.[1] This reversibility distinguishes AE from many chronic inflammatory or degenerative processes, as early intervention often halts progression and promotes neurological improvement in up to 80% of patients.[7]AE must be differentiated from infectious encephalitides, such as herpes simplex virus encephalitis, which involve direct pathogen invasion and typically feature prominent fever, higher cerebrospinal fluid pleocytosis, and neuroimaging abnormalities, whereas AE often lacks systemic infection signs and responds to immunomodulation rather than antimicrobials.[1] In contrast to neurodegenerative diseases like Alzheimer's or frontotemporal dementia, AE is usually monophasic or relapsing-remitting, with immunotherapy yielding functional recovery rather than inexorable decline.The recognition of AE as a distinct entity emerged in the early 2000s, with the seminal description of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in 2007, marking the first well-characterized antibody-associated form and spurring identification of over 20 additional autoantibody types targeting diverse neuronal proteins.[8] This expansion has transformed AE from a rare paraneoplastic syndrome into a broader category of treatable disorders, emphasizing the importance of antibody testing in unexplained encephalopathies.[1]
Historical Development
The concept of autoimmune encephalitis emerged from early observations of inflammatory brain disorders linked to underlying malignancies, now recognized as paraneoplastic syndromes. In 1960, Brierley and colleagues described subacute encephalitis primarily affecting the limbic areas in adults, characterized by memory loss, seizures, and psychiatric symptoms, often in association with lung cancer or other tumors, though the autoimmune basis was not yet understood.[9] These cases were initially attributed to direct oncogenic effects or undefined toxic mechanisms rather than immune-mediated processes, with further reports in the 1970s and 1980s reinforcing the paraneoplastic connection, particularly with small cell lung cancer.[10]Breakthroughs in the 1980s and 1990s identified specific autoantibodies targeting intracellular neuronal proteins, marking the shift toward recognizing autoimmune contributions in paraneoplastic encephalitis. In 1986, Graus and colleagues discovered anti-Hu antibodies in patients with sensory neuronopathy and encephalomyelitis associated with lung cancer, establishing them as a serological marker for paraneoplastic syndromes. Similarly, anti-Ma antibodies were identified in the early 1990s in cases of limbic encephalitis and brainstem involvement linked to testicular or other tumors, further delineating immune-mediated neuronal damage. These intracellular antibodies primarily highlighted paraneoplastic contexts, with limited treatment responses due to their association with irreversible neuronal destruction.A paradigm shift occurred in 2007 when Dalmau and colleagues reported anti-N-methyl-D-aspartate receptor (NMDAR) antibodies as the first identified neuronal surface autoantibodies causing encephalitis, often in young women without tumors but sometimes paraneoplastic with ovarian teratomas.[11] This discovery expanded the spectrum to include non-paraneoplastic autoimmune encephalitis (AE), emphasizing reversible synaptic dysfunction and immunotherapy responsiveness. In the 2010s, recognition grew with identification of additional surface antibodies (e.g., against LGI1 and CASPR2) and the establishment of diagnostic criteria; notably, Graus et al. proposed international guidelines in 2016 for possible, probable, and definite AE, integrating clinical, imaging, and CSF findings to standardize diagnosis beyond antibody specificity.[12]Recent advances as of 2025 have addressed diagnostic challenges in seronegative AE through multi-omics approaches, including proteomics of cerebrospinal fluid, revealing patterns of immune dysregulation and neuronal injury that aid classification even without detectable antibodies.[13] Additionally, post-infectious triggers have gained prominence, with growing evidence linking SARS-CoV-2 infection to AE onset via molecular mimicry or bystander activation, as evidenced by systematic reviews of cases from 2020 onward showing anti-NMDAR and other antibody-positive encephalitis following COVID-19.[14] Ongoing clinical trials as of 2025 focus on neural surface antibody AE, while emerging therapies such as tocilizumab have shown promise in refractory cases.[15][16]
Epidemiology
Incidence and Prevalence
Autoimmune encephalitis (AE) is a rare but increasingly recognized condition, with an estimated annual incidence of 0.8 to 1.0 cases per 100,000 person-years in adults based on population-based studies from high-income regions. In pediatric populations, the overall incidence of AE appears higher relative to specific subtypes, reaching up to 7.0 cases per million children per year, though data remain limited due to diagnostic challenges. For anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, the most prevalent subtype, the incidence is approximately 1.5 cases per million individuals annually, with a higher relative frequency in children and adolescents, where it accounts for 50-80% of pediatric AE cases and has an estimated incidence of 0.85 to 4.2 cases per million children annually in various studies.[17][18][19]Among AE subtypes, anti-NMDAR encephalitis represents the most common form, comprising approximately 40% of diagnosed cases across age groups, particularly in younger patients including children and adolescents. In contrast, anti-leucine-rich glioma-inactivated 1 (anti-LGI1) encephalitis is more prevalent in older adults, with a peak incidence between 60 and 70 years and a marked male predominance (roughly 2:1 male-to-female ratio), occurring at an annual rate of about 0.8 to 1.0 cases per million in studied populations. These variations highlight the heterogeneous epidemiology of AE, influenced by age and antibody specificity.[20][21][22]Global reporting of AE is disproportionately higher in Europe and North America, where advanced diagnostic testing for neuronal antibodies is widely available, leading to incidence estimates of 0.8-1.5 per 100,000 in these areas. In low-resource settings, underdiagnosis is substantial, potentially affecting 50-70% of cases due to limited access to cerebrospinal fluid analysis and antibody assays, resulting in many instances being misattributed to infectious or psychiatric etiologies. This disparity underscores the need for improved global surveillance to capture the true burden.[23][24][25]Over the past decade, the reported incidence of AE has approximately doubled from 2010 to 2020, attributed to heightened clinical awareness, broader antibody testing panels, and inclusion in diagnostic criteria, with some tertiary centers observing a fourfold increase in case detection rates among admitted patients. This trend has continued into the 2020s, with ongoing increases attributed to enhanced testing and awareness, as of 2025. This temporal rise reflects evolving recognition rather than a true surge in occurrence, emphasizing the role of diagnostic advancements in epidemiological trends.[26][23]
Risk Factors and Demographics
Autoimmune encephalitis exhibits a bimodal age distribution, with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis predominantly affecting young females aged 15 to 30 years, often associated with ovarian teratomas.[27] In contrast, anti-leucine-rich glioma-inactivated 1 (LGI1) encephalitis typically occurs in older adults aged 50 to 70 years.[28]Overall, autoimmune encephalitis shows a female predominance at a ratio of approximately 2:1, largely driven by the high incidence in females with anti-NMDAR encephalitis, where the ratio can reach 4:1.[27] However, certain subtypes display male bias, such as anti-contactin-associated protein-like 2 (CASPR2) encephalitis, which affects males in over 90% of cases.[29]Genetic factors play a limited role, with rare family clustering observed in less than 5% of cases, suggesting minimal hereditary transmission.[2] Specific human leukocyte antigen (HLA) associations have been identified in subtypes like anti-IgLON5 disease, where HLA-DRB110:01 and HLA-DQB105:01 haplotypes confer increased risk.[30]Environmental triggers include post-infectious processes, such as herpes simplex virus encephalitis, which precedes up to 30% of anti-NMDAR cases, and Mycoplasma pneumoniae infections in select instances.[31] Paraneoplastic associations occur in 20% to 30% of patients, most commonly with small-cell lung cancer in older adults.[32]Comorbid autoimmune conditions are present in 10% to 15% of cases, including thyroiditis such as Hashimoto's encephalopathy, which co-occurs in about 6% to 8% of certain subtypes like CASPR2 encephalitis.[33] Prior exposure to immunotherapy for other autoimmune disorders has been noted in some seronegative cases, potentially exacerbating vulnerability.[33]
Autoimmune encephalitis (AE) arises from dysregulated immune responses targeting central nervous system (CNS) antigens, primarily involving humoral and cellular immunity that disrupts neuronal function. B cells and T cells play central roles, with autoantibodies and cytotoxic T cells mediating tissue damage, often triggered by environmental or neoplastic factors that breach immune tolerance. This leads to an inflammatory cascade involving complement activation, microglial priming, and cytokine dysregulation, culminating in synaptic loss and neuronal hyperexcitability.[34]Autoantibody production in AE is driven by B-cell activation, which generates IgG antibodies—predominantly IgG1 and IgG4 subclasses—against neuronal surface antigens such as ion channels or synaptic proteins. These autoantibodies are produced by plasma cells that infiltrate the CNS after breaching the blood-brain barrier (BBB), facilitated by inflammation-induced upregulation of adhesion molecules like ICAM-1 and VCAM-1, as well as chemokines such as CXCR3 and CCR5. Clonal expansion of CD138+ plasma cells within the cerebrospinal fluid (CSF) compartment sustains intrathecal antibody synthesis, with higher autoantibody titers often detected in CSF compared to serum, underscoring local B-cell maturation in the CNS.[35][36]T-cell involvement contributes to both initiation and persistence of AE, particularly in paraneoplastic forms. CD8+ cytotoxic T cells infiltrate the CNS and induce neuronal apoptosis through release of granzyme B and perforin, as observed in cases associated with intracellular antigens like Hu or Yo, where T-cell clusters surround damaged neurons. CD4+ T cells differentiate into pro-inflammatory subsets, including Th1 cells producing IFN-γ and TNF-α, and Th17 cells secreting IL-17 to promote BBB permeability and further immune cell recruitment. Dysfunction of regulatory T cells (Tregs), which normally suppress autoreactive responses, correlates with disease severity, as reduced Treg frequencies in CSF are linked to poorer outcomes.[35][37]Hypotheses for AE triggers include molecular mimicry, where post-viral infections lead to cross-reactive antibodies or T cells targeting neuronal epitopes, as exemplified by herpes simplex virus triggering anti-NMDA receptor responses. In paraneoplastic AE, tumor antigens (e.g., from ovarian teratomas or small-cell lung cancer) elicit immune responses that cross-react with CNS proteins, driving both humoral and cellular autoimmunity. Cytokine storms, characterized by elevated IL-6 levels, amplify these triggers by enhancing BBB disruption and promoting Th17 differentiation, thereby facilitating autoantibody access to the CNS parenchyma.[38][39]The inflammatory cascade in AE begins with autoantibody binding to neuronal targets, activating the complement system via the classical pathway and generating anaphylatoxins like C3a and C5a that recruit immune effectors. This complement activation, evident in anti-GAD65-associated AE, deposits C3 fragments on neurons and exacerbates synaptic disruption. Concurrently, microglia respond to damage-associated molecular patterns by upregulating MHC class I/II and costimulatory molecules (e.g., CD80/86), amplifying T-cell responses and releasing pro-inflammatory mediators such as TNF-α and nitric oxide, which induce neuronal hyperexcitability and long-term synaptic loss.[40][41]
Antibody Targets and Neuronal Effects
In autoimmune encephalitis, autoantibodies primarily target neuronal surface proteins, synaptic components, or intracellular antigens, leading to functional disruptions that impair synaptic transmission and neuronal excitability. These antibodies bind to specific epitopes on neuronal proteins, often inducing conformational changes or internalization that alter receptor clustering and signaling pathways.[42]Surface antigens, such as ionotropic glutamate receptors, are commonly affected in antibody-mediated encephalitis. For instance, anti-NMDA receptor antibodies target the GluN1 subunit, promoting crosslinking and subsequent endocytosis of the receptors, which reduces synaptic density and diminishes NMDA receptor-mediated currents. This internalization disrupts long-term potentiation (LTP) and synaptic plasticity, contributing to cognitive and behavioral deficits. Similarly, anti-AMPA receptor antibodies induce rapid internalization and degradation of GluA1/GluA2 subunits, decreasing AMPAR currents and synaptic AMPA receptor density, which impairs excitatory synaptic transmission and memory formation.[43][44][45]Intracellular targets, in contrast, are associated with poorer therapeutic responses due to limited antibody access and persistent immune-mediated damage. Anti-GAD65 antibodies, for example, bind to glutamic acid decarboxylase 65, an enzyme critical for GABA synthesis in inhibitory interneurons, thereby inhibiting GABA production and reducing inhibitory neurotransmission. This leads to neuronal hyperexcitability and is often linked to refractory epilepsy and ataxia, with immunotherapy showing limited efficacy compared to surface antigen disorders.[42][46]Synaptic proteins also serve as key targets, disrupting ion channel complexes and nodal structures. Anti-LGI1 antibodies interfere with leucine-rich glioma-inactivated 1 protein, which normally stabilizes presynaptic Kv1 voltage-gated potassium channels, resulting in channel disassembly and reduced potassium currents that promote neuronal hyperexcitability and faciobrachial dystonic seizures. Anti-CASPR2 antibodies target contactin-associated protein-like 2 at the juxtaparanodal region of the node of Ranvier, disrupting potassium channel clustering and altering action potential propagation, which can enhance presynaptic release and contribute to neuropathic pain and autonomic instability.[43][47][48]Overlapping effects arise from cross-reactivity in patient sera, where antibodies may bind multiple antigens, amplifying synaptic dysfunction. This can lead to downstream excitotoxicity through glutamate dysregulation, as reduced inhibitory tone or altered receptor trafficking exacerbates calcium influx and neuronal damage across affected circuits.[6][49]
Clinical Presentation
Core Signs and Symptoms
Autoimmune encephalitis typically presents with a subacute onset of neuropsychiatric and neurological symptoms, reflecting immune-mediated disruption of brain function. Core manifestations include acute psychiatric features such as psychosis, agitation, hallucinations, and behavioral changes, affecting approximately 70-80% of patients across subtypes.[50]Memory impairment and confusion are also prominent, often leading to altered mental status and cognitive deficits that impair daily functioning.[51] These symptoms arise from inflammation targeting neuronal surface antigens, resulting in a fluctuating clinical course.Neurological signs are equally central, with seizures occurring in about 70-80% of cases, frequently as focal or generalized events that may progress to status epilepticus.[50]Movement disorders, including dyskinesias, chorea, or dystonia, manifest in roughly 40-50% of patients, particularly in anti-NMDA receptor encephalitis.[51] Autonomic instability is common, featuring tachycardia, blood pressure fluctuations, or dysautonomia in 60-70% of affected individuals, sometimes necessitating intensive care.[52] These features often coexist, contributing to a progressive deterioration if untreated.The disease evolves over days to weeks, with a subacute progression marked by worsening symptoms and potential relapses despite initial stabilization.[50] In adults, limbic-predominant symptoms like amnesia and temporal lobe seizures are more typical, whereas pediatric cases emphasize behavioral disturbances alongside prominent seizures and movement disorders.[53] This age-related variation influences early recognition, as children may present with less overt psychiatric involvement compared to adolescents and adults.[51]
Prodromal and Associated Features
Autoimmune encephalitis often begins with a prodromal phase characterized by nonspecific symptoms resembling a viral illness, occurring in approximately 70-80% of cases, particularly in anti-NMDAR encephalitis.[51] These symptoms typically include fever, headache, malaise, and gastrointestinal disturbances such as nausea, vomiting, or diarrhea, with gastrointestinal symptoms noted in up to 30% of anti-NMDAR cases preceding neurological involvement.[51] The prodromal period generally lasts 1-2 weeks before progression to core neuropsychiatric features like behavioral changes or seizures.[54]In subtypes associated with tumors, such as anti-NMDAR encephalitis in young females, systemic features may include pelvic or abdominal pain from an underlying ovarian teratoma, present in about 50% of adult female cases and sometimes manifesting as an early warning sign.[55] For anti-CASPR2 encephalitis, associated features often involve peripheral nerve hyperexcitability manifesting as neuromyotonia, with muscle cramps, fasciculations, and hyperhidrosis, alongside sicca symptoms like dry mouth in cases with overlapping dysautonomia.Extraneural manifestations can extend to multi-organ involvement, though rare, including autonomic instability and peripheral neuropathies. Morvan's syndrome, frequently linked to anti-CASPR2 antibodies, exemplifies this with combined central encephalitis, severe insomnia, and peripheral neuromyotonia, affecting up to 40% of anti-CASPR2 patients.[56] In anti-IgLON5 encephalitis, sleep disorders dominate as an early associated feature, with non-REM and REM parasomnias, sleep apnea, and daytime hypersomnolence occurring in over 80% of cases, often prompting initial evaluation for sleep pathology.[57]
Diagnosis
Clinical Assessment
The clinical assessment of suspected autoimmune encephalitis begins with a detailed history-taking to identify characteristic features and exclude alternative causes. A subacute onset of symptoms, typically progressing over days to weeks (less than 3 months), is a hallmark, often involving working memory deficits, altered mental status, or psychiatric symptoms such as psychosis or behavioral changes.[27] Recent infections or tumors should be inquired about as potential triggers, while mimics like drug intoxication, substance abuse, or metabolic derangements must be ruled out through targeted questioning and initial screening.[27] For instance, a history of recent viral illness or ovarian teratoma in young females raises suspicion for anti-NMDAR encephalitis.[58]The neurological examination focuses on detecting objective signs that support an encephalitic process. Altered mental status, ranging from confusion to coma, is common, alongside new focal central nervous system findings such as hemiparesis or sensory deficits.[27] Seizures, which may be overt or subclinical, are frequently observed and warrant immediate evaluation; electroencephalography (EEG) is essential to identify epileptiform activity or slowing, particularly in the temporal regions suggestive of limbic involvement.[27] In patients presenting with prominent psychiatric features, the exam may reveal subtle neurological abnormalities like orofacial dyskinesias or autonomic instability, distinguishing autoimmune etiology from primary psychiatric disorders.[58]Diagnostic scoring tools aid in systematizing the assessment. The Graus criteria for probable autoimmune encephalitis require subacute onset of short-term memory loss, altered mental status, or psychiatric symptoms, plus at least one of the following: new focal central nervous system findings, seizures, cerebrospinal fluid pleocytosis, or magnetic resonance imaging abnormalities involving the limbic regions, with reasonable exclusion of alternative causes.[27] These 2016 criteria, refined in 2023 to better address antibody-negative cases by emphasizing substantiated absence of neural antibodies in CSF and serum, facilitate early recognition and emphasize clinical phenomenology over antibody results initially.[59] Additionally, the Clinical Assessment Scale in Autoimmune Encephalitis (CASE) provides a structured severity score (0-27 points) across nine domains, including seizures, memory dysfunction, psychiatric symptoms, and dyskinesia, helping to quantify impairment and monitor progression during initial evaluation; recent studies as of 2024 continue to validate its utility.[60][61]Certain red flags in the history and exam heighten suspicion for autoimmune encephalitis, particularly in atypical psychiatric presentations. In young patients, especially females under 30, the combination of acute psychosis with movement disorders like dyskinesia or catatonia strongly prompts consideration of autoimmune causes over primary psychiatric illness, as these features occur frequently in anti-NMDAR cases and often lead to initial psychiatric hospitalization.[58] Other indicators include refractory seizures, autonomic dysregulation (e.g., tachycardia or temperature instability), or faciobrachial dystonic seizures, which necessitate urgent neurological consultation to avoid diagnostic delays averaging months in unaware settings.[58]
Laboratory and Imaging Methods
Laboratory diagnosis of autoimmune encephalitis relies heavily on cerebrospinal fluid (CSF) analysis, which provides supportive evidence of neuroinflammation. CSF pleocytosis, typically lymphocytic and mild to moderate (5-50 cells/μL), is observed in around 50-60% of cases across various subtypes in reported cohorts, reflecting immune cell infiltration into the central nervous system.[62] Oligoclonal bands, indicative of intrathecal immunoglobulin production, are present in approximately 40-50% of patients in some cohorts, further supporting an autoimmune process.[63] Additionally, intrathecal antibody synthesis, assessed via antibody-specific indices (e.g., anti-NMDAR IgG index), enhances diagnostic specificity by confirming local production of pathogenic autoantibodies rather than passive serum leakage.[64]Detection of specific autoantibodies in serum and CSF remains the cornerstone for confirming autoimmune encephalitis, particularly for neuronal surface antigens. Cell-based assays (CBAs) are the gold standard for identifying IgG antibodies against targets such as the NMDA receptor (e.g., NMDA-R IgG), offering high sensitivity of 80-90% when testing both compartments, with CSF demonstrating superior specificity (often >95%) for intrathecal synthesis.[65] These assays involve transfected cells expressing the antigen, allowing visualization of antibody binding via immunofluorescence, and are preferred over older methods like immunohistochemistry due to reduced false positives from cross-reacting antibodies.[66] For instance, in anti-NMDAR encephalitis, CSF positivity is nearly always required for definitive diagnosis, as serum alone may yield false negatives in up to 20% of cases.[67]Neuroimaging modalities complement laboratory findings by visualizing structural and functional brain changes. Brain MRI, using T2/FLAIR sequences, reveals hyperintensities in limbic structures (e.g., medial temporal lobes, hippocampus) in about 60% of patients with limbic-predominant autoimmune encephalitis, though findings may be normal in up to 40% early in the disease course.[68] Fluorodeoxyglucose positron emission tomography (FDG-PET) is more sensitive, detecting regional hypometabolism in limbic and extralimbic areas (e.g., temporal lobes, basal ganglia) in over 70% of cases where MRI is inconclusive, aiding in early diagnosis and subtype differentiation.[69]Electroencephalography (EEG) provides electrophysiological evidence of encephalopathy and seizures, supporting the diagnosis in conjunction with clinical criteria. In anti-NMDAR encephalitis, the characteristic "extreme delta brush" pattern—rhythmic delta oscillations superimposed with beta activity—is seen in approximately 30% of adults, often correlating with disease severity and requiring continuous monitoring for detection.[70] For limbic autoimmune encephalitis subtypes (e.g., anti-LGI1), focal epileptiform discharges or slowing in temporal regions occur in 50-80% of cases, highlighting irritative and dysfunctional cortical activity.[71]
Treatment
First-Line Immunotherapies
First-line immunotherapies for autoimmune encephalitis aim to rapidly suppress the autoimmune response and prevent irreversible neuronal damage through high-dose immunosuppression, typically initiated soon after diagnosis to confirm exclusion of infectious mimics. These treatments are standardized across antibody-mediated forms, with selection influenced by factors such as the presence of paraneoplastic tumors and patient-specific contraindications, though core regimens remain consistent regardless of specific antibody targets.[71][72]Intravenous corticosteroids, such as methylprednisolone at 1 g/day for 5 days, represent a cornerstone of initial therapy due to their potent anti-inflammatory effects and broad accessibility. This regimen yields clinical improvement in approximately 80% of patients (65% with steroids alone), with response rates up to 75% in non-paraneoplastic cases like anti-LGI1 encephalitis.[71][72][73][74]Intravenous immunoglobulin (IVIG) is administered at 0.4 g/kg/day for 5 days (totaling 2 g/kg), providing passive immunity and modulating B-cell activity to reduce autoantibody production. It is particularly useful when corticosteroids are contraindicated, such as in active infections or psychiatric comorbidities, and achieves comparable efficacy to steroids in many seropositive cases.[71][72]Plasma exchange serves as an alternative or adjunct, involving 5-7 sessions to remove circulating autoantibodies, especially beneficial in patients with poor peripheral vascular access where IVIG infusion is challenging. It is often reserved for steroid-refractory cases but can be combined upfront in severe presentations for enhanced autoantibody clearance.[71][72]In paraneoplastic autoimmune encephalitis, prompt tumor management is integral, with surgical resection—such as ovarian teratoma removal in anti-NMDAR cases—leading to major neurological improvement in approximately 80% of patients when performed early alongside immunotherapy.[75][71]Combination therapy with corticosteroids, IVIG, and/or plasma exchange is the standard approach for most patients to maximize response, with initiation ideally within 2-4 weeks of symptom onset to optimize recovery and minimize relapses. Delays beyond 4 weeks are associated with poorer outcomes and higher relapse risk.[71][72][76]
Advanced and Supportive Therapies
In cases refractory to first-line immunotherapies, second-line treatments are employed to achieve deeper B-cell depletion or broader immunosuppression. Rituximab, a monoclonal anti-CD20 antibody administered at 375 mg/m² weekly for four doses, is the most commonly used second-line agent, targeting CD20-positive B cells to reduce autoantibody production and has been shown to improve outcomes in 80-94% of autoimmune encephalitis (AE) patients across major subtypes.[77]Cyclophosphamide, an alkylating agent, is reserved for aggressive or rapidly progressive disease, often combined with rituximab, and functions by inhibiting DNA replication in rapidly dividing immune cells to suppress ongoing inflammation.[72]Emerging biologics target specific inflammatory pathways in refractory AE. Tocilizumab, an interleukin-6 receptor antagonist, has demonstrated efficacy in cytokine-driven cases unresponsive to rituximab by blocking IL-6-mediated inflammation, with case reports indicating neurological stabilization.[78] Bruton tyrosine kinase (BTK) inhibitors, such as evobrutinib, represent a novel class under investigation in 2020s clinical trials for autoimmune neurological disorders such as multiple sclerosis, with potential applications to AE by inhibiting B-cell and microglial activation to prevent antibody-mediated neuronal damage.[78][79] Ongoing trials as of 2025 include a phase 2B study of inebilizumab for anti-NMDAR encephalitis, targeting CD19-positive B cells in refractory cases.[80]Supportive therapies address acute complications and stabilize patients during immunotherapy escalation. Antiepileptic drugs like levetiracetam are first-line for seizure control in AE-associated status epilepticus, providing rapid suppression of hyperexcitability without exacerbating cognitive symptoms.[81]Intensive care unit (ICU) management is essential for autonomic instability, such as dysautonomia or cardiorespiratory crises, involving hemodynamic monitoring and mechanical ventilation to prevent secondary organ damage.[82] For prominent psychiatric features like psychosis, multidisciplinary supportive care includes antipsychotics such as quetiapine to manage agitation and behavioral disturbances, alongside environmental modifications to reduce distress.[83]Relapse prevention strategies are critical given the 20-30% relapse rate observed across AE subtypes, often within the first two years. Long-term maintenance with low-dose corticosteroids or repeated rituximab cycles (e.g., every 6 months) significantly lowers relapse risk by sustaining immune modulation, with rituximab reducing odds by up to 71% in anti-NMDAR encephalitis.[84][85]
Prognosis
Short-Term Outcomes
In autoimmune encephalitis, first-line immunotherapies such as corticosteroids, intravenous immunoglobulin, or plasma exchange lead to clinical improvement in 70-80% of patients within 1-2 months of initiation, with approximately 50% achieving full recovery during this acute phase.[86] Early response is often marked by resolution of acute symptoms like seizures and behavioral changes, though the pace varies based on disease severity and promptness of intervention.[87]Common early complications include status epilepticus, occurring in about 20-35% of cases and frequently requiring intensive care management, and respiratory failure necessitating mechanical ventilation, seen in approximately 57% of severe (ICU-admitted) presentations.[88] These complications contribute to prolonged hospital stays but are often reversible with timely supportive care alongside immunotherapy.[81]Factors influencing short-term outcomes are critically tied to treatment timing and underlying etiology; early immunotherapy can reduce mortality, resulting in overall rates of 6%–19% in treated cases, with lower rates in non-paraneoplastic forms (e.g., <10% in anti-NMDAR encephalitis), whereas paraneoplastic forms carry a higher mortality risk of around 20% due to associated tumor progression.[86] Prognosis is routinely monitored using the modified Rankin Scale (mRS), with 60% of patients achieving a good outcome (mRS score 0-2, indicating minimal disability) at the 3-month mark.[89]
Long-Term Complications
Autoimmune encephalitis survivors frequently experience enduring cognitive deficits, with memory and executive dysfunction persisting in a substantial proportion of cases. Approximately 40% of patients demonstrate memory impairments one year after onset, while executive function deficits affect 20% to 60% depending on the specific antibody subtype, such as anti-NMDAR or anti-LGI1 encephalitis.[86] These deficits are often linked to structural changes, including hippocampal atrophy visible on follow-up MRI, which correlates with long-term amnesia particularly in limbic-predominant forms like anti-LGI1 encephalitis.[90]Psychiatric sequelae represent another significant long-term burden, with depression affecting 10% to 40% of patients and post-traumatic stress disorder (PTSD) reported in up to 21% of survivors across various etiologies.[91] Incomplete or delayed immunotherapy elevates relapse risk by 20% to 30%, potentially worsening these psychiatric outcomes and necessitating ongoing mental health support.[92]Neurological residuals further complicate recovery, including chronic epilepsy in 15% to 20% of cases—higher among those with intracellular antibodies—and persistent movement disorders in approximately 10%, such as in anti-DPPX-associated encephalitis.[93][89] These issues, including ongoing seizures, can impair mobility and independence even years post-acute phase.Quality of life remains diminished for many, with 50% to 70% of patients returning to work or prior activities, though rates tend to be higher in non-paraneoplastic cases due to tumor-related factors.[94][95] Comprehensive multidisciplinary follow-up is essential to mitigate these impacts and optimize functional recovery.
Classification
Anti-NMDAR Encephalitis
Anti-NMDAR encephalitis is an antibody-mediated form of autoimmune encephalitis defined by the presence of immunoglobulin G (IgG) autoantibodies targeting the GluN1 subunit of the N-methyl-D-aspartate receptor (NMDAR), which bind to the receptor's extracellular domain and induce its internalization, thereby reducing synaptic NMDAR function.[96] This condition was first systematically described in a series of 100 patients, highlighting its association with ovarian teratomas expressing NMDARs.[96]The disease predominantly affects young females, with 81% of cases occurring in women and a median age at onset of 21 years (range 1–85 years), including 37% of patients under 18 years.[97] In a large cohort of 577 patients, 38% had an underlying tumor, most commonly ovarian teratoma (94% of tumors), with prevalence reaching 54% in females over 18 years but only 4% in children.[97] The classic clinical presentation unfolds in stages: a prodromal phase with fever, headache, or flu-like symptoms in 81% of cases, followed by acute onset of psychiatric symptoms such as delusions, hallucinations, agitation, or catatonia in 77%, and then progressive neurological involvement including seizures (80%), orofacial or limb dyskinesias (approximately 60%), memory impairment, language dysfunction, autonomic instability (e.g., tachycardia, blood pressure lability), and decreased level of consciousness leading to coma in up to 50%.[97][96] In severe cases, patients require intensive care, with mechanical ventilation needed in about 70%.[96]Diagnostic hallmarks include cerebrospinal fluid (CSF) analysis showing lymphocytic pleocytosis in 80–90% of patients (often 5–50 cells/μL) with normal-to-mildly elevated protein, and intrathecal antibody synthesis confirmed by cell-based assays, where CSF testing is more sensitive than serum (detecting 4% CSF-only positives).[97][98]Electroencephalography (EEG) reveals abnormalities in over 80% of cases, typically diffuse slow-wave activity, with the pathognomonic "extreme delta brush" pattern—rhythmic delta oscillations superimposed with beta activity—present in up to 30% of adults, correlating with prolonged illness and dyskinesias but aiding early recognition. Relapses occur in 12–24% of patients within 2 years, more frequently if a teratoma persists without removal, often presenting with milder psychiatric or cognitive symptoms.[97][98]Treatment involves tumor resection when applicable, combined with first-line immunotherapy (corticosteroids, intravenous immunoglobulin, or plasma exchange), leading to improvement in 80% of responsive cases within weeks to months.[97] Second-line agents like rituximab or cyclophosphamide are used for refractory disease, reducing relapse risk and improving long-term outcomes.[97] In the 577-patient cohort, 81% achieved a good outcome (modified Rankin Scale score 0–2, indicating no or mild disability) at 24 months, with early tumor removal and immunotherapy initiation associated with better recovery (odds ratio 5.38 for immunotherapy response).[97] Pediatric cases show particularly favorable prognosis, with over 90% achieving full or near-full recovery due to earlier treatment and lower tumor rates, while overall mortality is 6% from complications like respiratory failure or infections.[97][96]
Anti-LGI1 and Anti-CASPR2 Encephalitis
Autoimmune encephalitis associated with antibodies against leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) targets components of the voltage-gated potassium channel (VGKC) complex at neuronal synapses, leading to limbic-predominant or mixed central and peripheral neurological syndromes, respectively.[99] These conditions typically affect older adults and respond well to immunotherapy, though relapses and residual deficits can occur.[21]Anti-LGI1 encephalitis primarily involves the limbic system and manifests in approximately 67% of cases in males with a median age of onset around 60 years.[99] Key features include faciobrachial dystonic seizures (FBDS), brief dystonic movements affecting the face and arm, occurring in about 50% of patients often preceding full limbic involvement.[21] Amnesia and cognitive impairment are prominent, with hyponatremia due to syndrome of inappropriate antidiuretic hormone secretion (SIADH) present in roughly 60% of cases.[99] Paraneoplastic associations are uncommon, affecting fewer than 10% of patients, typically without thymoma.[99]In contrast, anti-CASPR2 encephalitis often combines central nervous system (CNS) and peripheral features, such as neuromyotonia (muscle stiffness and twitching) and Morvan's syndrome, characterized by severe insomnia, autonomic dysfunction, hallucinations, and pain.[99] It similarly affects older adults (median age 60 years) with a slight male predominance.[99]Thymoma is associated in about 10% of cases, higher than in anti-LGI1 disease, though overall paraneoplastic rates remain low at under 20%.[99][100]Both forms show excellent prognosis with early immunotherapy; approximately 80% of anti-LGI1 patients achieve substantial remission with steroids, though cognitive recovery, particularly memory, may lag, leaving mild residual issues in about 20% long-term.[21] Anti-CASPR2 cases also respond robustly to first-line treatments like corticosteroids, with rituximab aiding refractory peripheral symptoms, but relapses occur in up to 20%.[99]
Anti-GABA Receptor Encephalitides
Anti-GABA receptor encephalitides encompass two distinct subtypes: anti-GABA-A receptor (GABA-AR) encephalitis and anti-GABA-B receptor (GABA-BR) encephalitis, both characterized by autoantibodies targeting inhibitory neurotransmitter receptors in the central nervous system, leading to prominent epileptic phenotypes.[101] GABA-AR encephalitis often presents as a cytotoxic form with multifocal brain involvement, particularly affecting children and young adults, while GABA-BR encephalitis typically manifests as limbic encephalitis in middle-aged or older individuals, with a high paraneoplastic association.[102] These conditions highlight the role of GABAergic dysfunction in generating refractory seizures and encephalopathy.[103]GABA-AR encephalitis is more common in pediatric patients, comprising about 36% of cases in reviewed series, and features refractory status epilepticus in approximately 80% of affected individuals, often accompanied by opsoclonus, chorea, or ataxia.[101]Magnetic resonance imaging (MRI) typically reveals multifocal T2/FLAIR hyperintense lesions in cortical and subcortical regions without gadolinium enhancement, indicative of cytotoxic edema.[101] In contrast, GABA-BR encephalitis predominantly occurs in adults with a median age of 52 years, presenting with limbic symptoms such as memory impairment, behavioral changes, and frequent seizures in nearly all cases (100%), including status epilepticus in up to 35%.[102][104] Approximately 50% of GABA-BR cases are paraneoplastic, most commonly associated with small cell lung cancer (SCLC), and MRI shows unilateral or bilateral medial temporal lobe hyperintensities.[105][102] Both subtypes exhibit poor initial response to antiepileptic drugs (AEDs), underscoring the autoimmune etiology over primary epilepsy.[106]Diagnosis relies on detecting high-titer antibodies in cerebrospinal fluid (CSF), which are more specific than serum, often with pleocytosis or oligoclonal bands supporting intrathecal synthesis.[102] For GABA-AR encephalitis, CSF antibodies confirm the diagnosis in the context of multifocal MRI abnormalities and refractory seizures unresponsive to standard AEDs.[101] In GABA-BR encephalitis, CSF positivity reaches 100% in reported cohorts, with tumor screening essential given the paraneoplastic link.[102] Early antibody testing is critical, as delays can exacerbate neurological damage.[107]Treatment begins with first-line immunotherapies such as corticosteroids, intravenous immunoglobulin, or plasma exchange, but many patients require escalation to second-line agents like rituximab due to incomplete responses.[101] In GABA-AR encephalitis, about 31% of cases necessitate second-line therapy, with combination approaches achieving recovery in over 50%.[101] For GABA-BR encephalitis, immunotherapy yields good outcomes in approximately 60% of non-paraneoplastic cases, though tumor-directed therapy is vital when applicable.[108] Delayed treatment increases mortality to 10-15% in both subtypes, primarily from respiratory failure or tumor progression, emphasizing prompt intervention.[101][109]
Other Antibody-Associated Forms
Autoimmune encephalitis associated with antibodies against less common neuronal targets encompasses a heterogeneous group of disorders, including those targeting the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), glycine receptor (GlyR), dipeptidyl-peptidase-like protein-6 (DPPX), IgLON5, and metabotropic glutamate receptors (mGluR1 or mGluR5). These conditions often present with subacute onset of neurological symptoms involving specific brain regions or systemic features, and they exhibit variable paraneoplastic associations ranging from 10% to 70% across subtypes, with immunotherapy yielding moderate to good responses in 50% to 80% of cases depending on early intervention and tumor management.[110][111]Anti-AMPAR encephalitis primarily manifests as limbic encephalitis characterized by psychiatric disturbances, memory impairment, and confusion, with additional features such as seizures or movement disorders in some patients.[112] It is paraneoplastic in approximately 70% of cases, most frequently linked to ovarian or breast tumors, though associations with lung cancer and thymoma are also reported.[113][114] First-line immunotherapy, often combined with tumor removal, results in partial neurological improvement in the majority of patients, but long-term outcomes are guarded, with up to 40% mortality due to relapses or comorbidities.[112]Anti-GlyR encephalitis is typified by progressive encephalomyelitis with rigidity and myoclonus (PERM), featuring muscle stiffness, spasms, and hyperekplexia (exaggerated startle responses), alongside brainstem involvement leading to dysautonomia or respiratory issues.[115] Paraneoplastic associations are uncommon, occurring in fewer than 20% of cases and occasionally tied to Hodgkin lymphoma or thymoma.[116] Patients generally show substantial improvement with prompt immunotherapy, including corticosteroids and intravenous immunoglobulin, achieving remission in over 70% of treated individuals, though relapses can occur.[115]Anti-DPPX encephalitis is distinguished by a prodromal phase of gastrointestinal dysautonomia, including diarrhea and prominent weight loss (often >10% body weight), followed by multifocal encephalitis with cognitive decline, tremors, and myoclonus.[117] Paraneoplastic links are rare, affecting about 10% of patients and primarily involving lymphomas or breast cancer.[118]Immunotherapy induces significant recovery in 60-80% of cases, with reduced disability scores post-treatment, but up to 20% experience relapses requiring second-line agents like rituximab.[117]Anti-IgLON5 disease presents with a unique combination of sleep disorders (such as non-REM parasomnias, sleep apnea, and stridor) and bulbar symptoms (dysphagia, dysarthria), often progressing to gait instability, chorea, or parkinsonism, with histopathological overlap to tauopathy in chronic cases.[119] It is rarely paraneoplastic, with tumors (e.g., prostate or breast cancer) identified in only 10-15% of patients, typically post-onset.[119]Prognosis is poor, with 30-40% mortality and limited immunotherapy response (partial improvement in ~50%), particularly if initiated after the first year of symptoms, due to its neurodegenerative features.[119]Antibodies against mGluR1 or mGluR5 cause encephalitis with predominant cerebellar ataxia (e.g., dysarthria, nystagmus, gait imbalance) in mGluR1 cases, often combined with limbic involvement (psychosis, seizures) in mGluR5 variants, and post-infectious triggers (e.g., viral prodrome) reported in up to 25% of patients.[120][111] Paraneoplastic associations vary, with ~20-50% tumor incidence, including Hodgkin lymphoma for mGluR5 and non-Hodgkin lymphoma for mGluR1.[120][121] Response to immunotherapy is favorable in 60-80% of cases, with complete recovery in about 20-40%, especially when combined with oncologic therapy, though residual ataxia may persist.[120]
Seronegative and Overlapping Syndromes
Seronegative autoimmune encephalitis (AE) encompasses cases that meet established diagnostic criteria for AE but show no detectable neuronal autoantibodies in serum or cerebrospinal fluid (CSF), despite comprehensive testing. These cases are diagnosed as probable seronegative AE under the 2016 Graus criteria, which require subacute onset of working memory deficits, altered mental status, or psychiatric symptoms; speech dysfunction; seizures, faciobrachial dystonic seizures, or central nervous system hyperexcitability; and supportive findings such as CSF pleocytosis or electroencephalographic abnormalities, with reasonable exclusion of alternative causes.[122] The prevalence of seronegative AE among definite AE diagnoses varies by cohort and testing methodology, ranging from 12% in some hospital-based series to up to 50% in specialized referral centers, reflecting challenges in antibody detection and potential underrecognition of subtle or intracellular targets.[123][124] Patients often present with limbic encephalitis features, including memory impairment, confusion, and seizures, but may exhibit heterogeneous syndromes such as cerebellar ataxia or movement disorders, complicating initial classification.[125]Overlapping syndromes highlight the spectrum of seronegative or partially antibody-associated AE, where additional autoimmune markers or clinical features suggest immune-mediated overlap without classic neuronal antibodies. Hashimoto's encephalopathy, for instance, features encephalopathy with high anti-thyroid peroxidase or anti-thyroglobulin antibodies, often mimicking seronegative AE through cognitive decline, seizures, and myoclonus, and is responsive to steroids despite lacking neuronal autoantibodies.[126] Similarly, Bickerstaff brainstem encephalitis involves anti-GQ1b antibodies targeting gangliosides, presenting with acute ophthalmoplegia, ataxia, and altered consciousness that overlap with AE features like hypersomnolence and brainstem involvement, distinguishing it from pure peripheral variants like Guillain-Barré syndrome.[127] These overlaps underscore the role of non-neuronal antibodies or post-infectious autoimmunity in driving encephalitic presentations.Diagnosis of seronegative AE relies on clinical acumen and ancillary tests due to absent biomarkers. CSF analysis frequently reveals inflammatory markers, including mild pleocytosis (typically 5-50 cells/μL), elevated protein, or oligoclonal bands, supporting an immune etiology in up to 60% of cases.[122] Brain fluorodeoxyglucose positron emission tomography (FDG-PET) aids in detection, showing characteristic hypometabolism in limbic or multifocal regions even when magnetic resonance imaging is normal, with sensitivity exceeding 80% for probable AE.[128] For probable cases, an empiric trial of high-dose corticosteroids (e.g., intravenous methylprednisolone 1 g/day for 5 days) is recommended to assess treatment response, often followed by plasma exchange or intravenous immunoglobulin if improvement occurs, as delays in immunotherapy worsen outcomes.[71]Prognosis in seronegative AE mirrors that of seropositive forms when immunotherapy is initiated early, with approximately 57-92% of patients showing clinical improvement and achieving a modified Rankin Scale score of 0-2 at 2-year follow-up, though relapses occur in 10-20% of cases.[124] Early treatment within 3 months of symptom onset is associated with better recovery, but seronegative cases carry a higher risk of initial misdiagnosis as primary psychiatric disorders, such as schizophrenia, leading to delayed care in up to 20% of instances and potential iatrogenic harm from antipsychotics.[129] Long-term sequelae, including cognitive deficits or epilepsy, affect 30-40% of survivors, emphasizing the need for vigilant monitoring.[125]