Raras
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ORPHA:97275CID-10 · A86DOENÇA RARA

Processo inflamatório agudo que afeta o parênquima cerebral. As causas incluem infecções virais e, menos frequentemente, infecções bacterianas, toxinas e processos imunomediados.

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Introdução

O que você precisa saber de cara

📋

Processo inflamatório agudo que afeta o parênquima cerebral. As causas incluem infecções virais e, menos frequentemente, infecções bacterianas, toxinas e processos imunomediados.

Pesquisas ativas
27 ensaios
418 total registrados no ClinicalTrials.gov
Publicações científicas
55.567 artigos
Último publicado: 2026 Mar
Medicamentos
9 registrados
SATRALIZUMAB, METHYLPREDNISOLONE SODIUM SUCCINATE, METHYLPREDNISOLONE HEMISUCCINATE

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9 medicamentos registrados
Ver detalhes, fases e interações →
SATRALIZUMABMETHYLPREDNISOLONE SODIUM SUCCINATEMETHYLPREDNISOLONE HEMISUCCINATEPEMBROLIZUMABRITUXIMABRIBAVIRININEBILIZUMABOCRELIZUMABALDESLEUKIN
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: A86
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
60 sintomas
💪
Músculos
15 sintomas
👁️
Olhos
14 sintomas
🫁
Pulmão
11 sintomas
🛡️
Imunológico
11 sintomas
🫃
Digestivo
10 sintomas

+ 176 sintomas em outras categorias

Características mais comuns

Fraqueza da musculatura facial
Teratoma testicular
Coreia
Rigidez
Hipotensão ortostática
Maneirismos repetitivos anormais
335sintomas
Sem dados (335)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 335 características clínicas mais associadas, ordenadas por frequência.

Fraqueza da musculatura facialWeakness of facial musculature
Teratoma testicularTesticular teratoma
CoreiaChorea
RigidezRigidity
Hipotensão ortostáticaOrthostatic hypotension

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico55.567PubMed
Últimos 10 anos200publicações
Pico2026199 papers
Linha do tempo
2026Hoje · 2026🧪 1987Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

7 genes identificados com associação a esta condição.

CPT2Carnitine O-palmitoyltransferase 2, mitochondrialCandidate gene tested inTolerante
FUNÇÃO

Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (PubMed:20538056, PubMed:24780397). Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters (PubMed:20538056)

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (2)
Carnitine shuttlePPARA activates gene expression
MECANISMO DE DOENÇA

Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced

An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death.

OUTRAS DOENÇAS (5)
carnitine palmitoyl transferase II deficiency, neonatal formcarnitine palmitoyl transferase II deficiency, severe infantile formcarnitine palmitoyl transferase II deficiency, myopathic formacute necrotizing encephalopathy of childhood
HGNC:2330UniProt:P23786
RANBP2E3 SUMO-protein ligase RanBP2Candidate gene tested inAltamente restrito
FUNÇÃO

E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:15931224, PubMed:22194619). Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates (PubMed:7775481). Binds single-stranded RNA (in vitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Component of the nuclear export pathway (PubMed:10078529). Specific dockin

LOCALIZAÇÃO

NucleusNucleus membraneNucleus, nuclear pore complexNucleus envelope

VIAS BIOLÓGICAS (2)
SUMOylation of DNA replication proteinsSUMOylation of SUMOylation proteins
MECANISMO DE DOENÇA

Encephalopathy, acute, infection-induced, 3

A rapidly progressive encephalopathy manifesting in susceptible individuals with seizures and coma. It can occur within days in otherwise healthy children after common viral infections such as influenza and parainfluenza, without evidence of viral infection of the brain or inflammatory cell infiltration. Brain T2-weighted magnetic resonance imaging reveals characteristic symmetric lesions present in the thalami, pons and brainstem.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
39.9 TPM
Ovário
37.7 TPM
Fibroblastos
36.7 TPM
Pituitária
36.5 TPM
Útero
34.5 TPM
OUTRAS DOENÇAS (3)
familial acute necrotizing encephalopathyacute necrotizing encephalopathy of childhoodinflammatory myofibroblastic tumor
HGNC:9848UniProt:P49792
TBK1Serine/threonine-protein kinase TBK1Candidate gene tested inAltamente restrito
FUNÇÃO

Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents (PubMed:10581243, PubMed:11839743, PubMed:12692549, PubMed:12702806, PubMed:14703513, PubMed:15367631, PubMed:15485837, PubMed:18583960, PubMed:21138416, PubMed:23453971, PubMed:23453972, PubMed:23746807, PubMed:25636800, PubMed:26611359, PubMed:32404352, PubMed:34363755, PubMed:32298923). Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 a

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (10)
PINK1-PRKN Mediated MitophagyDDX58/IFIH1-mediated induction of interferon-alpha/betaSARS-CoV-2 activates/modulates innate and adaptive immune responsesTRAF3-dependent IRF activation pathwayTRAF6 mediated IRF7 activation
MECANISMO DE DOENÇA

Glaucoma 1, open angle, P

A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. GLC1P is characterized by early onset, thin central corneas and low intraocular pressure.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
50.3 TPM
Testículo
42.8 TPM
Fibroblastos
35.0 TPM
Pulmão
30.8 TPM
Útero
30.3 TPM
OUTRAS DOENÇAS (6)
autoinflammation with arthritis and vasculitisfrontotemporal dementia and/or amyotrophic lateral sclerosis 4amyotrophic lateral sclerosisfrontotemporal dementia with motor neuron disease
HGNC:11584UniProt:Q9UHD2
TLR3Toll-like receptor 3Candidate gene tested inTolerante
FUNÇÃO

Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a nucleotide-sensing TLR which is activated by double-stranded RNA, a sign of viral infection. Acts via the adapter TRIF/TICAM1, leading to NF-kappa-B activation, IRF3 nuclear translocation, cytokine secretion and the inflammatory response

LOCALIZAÇÃO

Endoplasmic reticulum membraneEndosome membraneEarly endosome

VIAS BIOLÓGICAS (10)
TICAM1,TRAF6-dependent induction of TAK1 complexToll Like Receptor 3 (TLR3) CascadeRIP-mediated NFkB activation via ZBP1TICAM1, RIP1-mediated IKK complex recruitmentTLR3-mediated TICAM1-dependent programmed cell death
MECANISMO DE DOENÇA

Immunodeficiency 83, susceptibility to viral infections

An immunologic disorder characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). IMD83 clinical manifestations include acute infection-induced encephalitis and pneumonitis. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system or lung epithelial cells. IMD83 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance with incomplete penetrance.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
5.1 TPM
Vagina
4.1 TPM
Adipose Visceral Omentum
4.1 TPM
Esôfago - Mucosa
4.0 TPM
Glândula adrenal
4.0 TPM
OUTRAS DOENÇAS (3)
herpes simplex encephalitissusceptibility to HIV infectionimmunodeficiency 83, susceptibility to viral infections
HGNC:11849UniProt:O15455
TICAM1TIR domain-containing adapter molecule 1Candidate gene tested inDesconhecido
FUNÇÃO

Involved in innate immunity against invading pathogens. Adapter used by TLR3, TLR4 (through TICAM2) and TLR5 to mediate NF-kappa-B and interferon-regulatory factor (IRF) activation, and to induce apoptosis (PubMed:12471095, PubMed:12539043, PubMed:14739303, PubMed:28747347, PubMed:35215908). Ligand binding to these receptors results in TRIF recruitment through its TIR domain (PubMed:12471095, PubMed:12539043, PubMed:14739303). Distinct protein-interaction motifs allow recruitment of the effector

LOCALIZAÇÃO

Cytoplasmic vesicle, autophagosomeCytoplasm, cytosolMitochondrion

VIAS BIOLÓGICAS (8)
TICAM1,TRAF6-dependent induction of TAK1 complexToll Like Receptor 3 (TLR3) CascadeRIP-mediated NFkB activation via ZBP1TICAM1, RIP1-mediated IKK complex recruitmentTLR3-mediated TICAM1-dependent programmed cell death
MECANISMO DE DOENÇA

Encephalopathy, acute, infection-induced, 6, herpes-specific

A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
60.9 TPM
Linfócitos
46.6 TPM
Aorta
34.9 TPM
Skin Not Sun Exposed Suprapubic
32.1 TPM
Pulmão
31.5 TPM
OUTRAS DOENÇAS (2)
herpes simplex encephalitisherpes simplex encephalitis, susceptibility to, 4
HGNC:18348UniProt:Q8IUC6
TRAF3TNF receptor-associated factor 3Candidate gene tested inAltamente restrito
FUNÇÃO

Cytoplasmic E3 ubiquitin ligase that regulates various signaling pathways, such as the NF-kappa-B, mitogen-activated protein kinase (MAPK) and interferon regulatory factor (IRF) pathways, and thus controls a lot of biological processes in both immune and non-immune cell types (PubMed:33148796, PubMed:33608556). In TLR and RLR signaling pathways, acts as an E3 ubiquitin ligase promoting the synthesis of 'Lys-63'-linked polyubiquitin chains on several substrates such as ASC that lead to the activa

LOCALIZAÇÃO

CytoplasmEndosomeMitochondrion

VIAS BIOLÓGICAS (6)
Ovarian tumor domain proteasesNegative regulators of DDX58/IFIH1 signalingActivation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE)TICAM1-dependent activation of IRF3/IRF7TNFR2 non-canonical NF-kB pathway
MECANISMO DE DOENÇA

Immunodeficiency 132A

An autosomal dominant immunologic disorder characterized by increased susceptibility to infection with certain pathogens, including Herpes simplex virus and Mycobacterium abscessus. Immunologic work-up shows impaired production of cytokines, including INFB and IL6.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
51.8 TPM
Cérebro - Hemisfério cerebelar
18.3 TPM
Cerebelo
18.0 TPM
Testículo
16.5 TPM
Pituitária
16.3 TPM
OUTRAS DOENÇAS (3)
herpes simplex encephalitis, susceptibility to, 3immunodeficiency 132bherpes simplex encephalitis
HGNC:12033UniProt:Q13114
UNC93B1Protein unc-93 homolog B1Candidate gene tested inTolerante
FUNÇÃO

Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B-cells removal

LOCALIZAÇÃO

Endoplasmic reticulum membraneEndosomeLysosomeCytoplasmic vesicle, phagosome

VIAS BIOLÓGICAS (1)
Trafficking and processing of endosomal TLR
MECANISMO DE DOENÇA

Encephalopathy, acute, infection-induced, 1, herpes-specific

A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome.

EXPRESSÃO TECIDUAL(Ubíquo)
Baço
128.5 TPM
Linfócitos
76.4 TPM
Sangue
66.9 TPM
Pulmão
60.4 TPM
Intestino delgado
52.1 TPM
OUTRAS DOENÇAS (2)
herpes simplex encephalitisherpes simplex encephalitis, susceptibility to, 1
HGNC:13481UniProt:Q9H1C4

Medicamentos e terapias

SATRALIZUMABPhase 3

Mecanismo: IL6Ralpha/GP130 antagonist

METHYLPREDNISOLONE SODIUM SUCCINATEPhase 3

Mecanismo: Glucocorticoid receptor agonist

METHYLPREDNISOLONE HEMISUCCINATEPhase 3

Mecanismo: Glucocorticoid receptor agonist

PEMBROLIZUMABPhase 2

Mecanismo: Programmed cell death protein 1 inhibitor

RITUXIMABPhase 2

Mecanismo: B-lymphocyte antigen CD20 binding agent

RIBAVIRINPhase 2

Mecanismo: Inosine-5'-monophosphate dehydrogenase 1 inhibitor

INEBILIZUMABPhase 2

Mecanismo: B-lymphocyte antigen CD19 binding agent

OCRELIZUMABPhase 2

Mecanismo: B-lymphocyte antigen CD20 binding agent

ALDESLEUKINPhase 1

Mecanismo: Interleukin-2 receptor agonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

734 variantes patogênicas registradas no ClinVar.

🧬 CPT2: NM_000098.3(CPT2):c.323del (p.His108fs) ()
🧬 CPT2: NM_000098.3(CPT2):c.1808_1831del (p.Ala603_Phe610del) ()
🧬 CPT2: NM_000098.3(CPT2):c.1821dup (p.Asp608Ter) ()
🧬 CPT2: NM_000098.3(CPT2):c.733G>T (p.Val245Phe) ()
🧬 CPT2: NM_000098.3(CPT2):c.1838G>A (p.Gly613Glu) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1,799 variantes classificadas pelo ClinVar.

989
810
VUS (55.0%)
Benigna (45.0%)
VARIANTES MAIS SIGNIFICATIVAS
TRAF3: NM_145725.3(TRAF3):c.233C>A (p.Ala78Glu) [Uncertain significance]
LOC126862065: NM_145725.3(TRAF3):c.651+4G>A [Uncertain significance]
TLR3: NM_003265.3(TLR3):c.2552T>G (p.Phe851Cys) [Uncertain significance]
TRAF3: NM_145725.3(TRAF3):c.1466C>T (p.Pro489Leu) [Uncertain significance]
DBR1: NM_016216.4(DBR1):c.461G>A (p.Arg154Lys) [Uncertain significance]

Vias biológicas (Reactome)

71 vias biológicas associadas aos genes desta condição.

PPARA activates gene expression Carnitine shuttle ISG15 antiviral mechanism Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Rev-mediated nuclear export of HIV RNA Transport of Ribonucleoproteins into the Host Nucleus NS1 Mediated Effects on Host Pathways Viral Messenger RNA Synthesis NEP/NS2 Interacts with the Cellular Export Machinery Regulation of Glucokinase by Glucokinase Regulatory Protein Nuclear import of Rev protein Vpr-mediated nuclear import of PICs snRNP Assembly Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Nuclear Pore Complex (NPC) Disassembly Regulation of HSF1-mediated heat shock response SUMOylation of SUMOylation proteins SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) RHO GTPases Activate Formins tRNA processing in the nucleus Mitotic Prometaphase HCMV Early Events IRF3 mediated activation of type 1 IFN DDX58/IFIH1-mediated induction of interferon-alpha/beta Regulation of innate immune responses to cytosolic DNA STAT6-mediated induction of chemokines IRF3-mediated induction of type I IFN PINK1-PRKN Mediated Mitophagy TNFR1-induced proapoptotic signaling Regulation of TNFR1 signaling Interleukin-37 signaling TICAM1-dependent activation of IRF3/IRF7 TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation Negative regulators of DDX58/IFIH1 signaling Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE) Potential therapeutics for SARS SARS-CoV-1 activates/modulates innate immune responses SARS-CoV-2 activates/modulates innate and adaptive immune responses Regulation of TBK1, IKKε (IKBKE)-mediated activation of IRF3, IRF7 Regulation of TBK1, IKKε-mediated activation of IRF3, IRF7 upon TLR3 ligation Trafficking and processing of endosomal TLR Toll Like Receptor 3 (TLR3) Cascade TICAM1, RIP1-mediated IKK complex recruitment RIP-mediated NFkB activation via ZBP1 TLR3 deficiency - HSE UNC93B1 deficiency - HSE TICAM1 deficiency - HSE TRAF3 deficiency - HSE TLR3-mediated TICAM1-dependent programmed cell death TICAM1,TRAF6-dependent induction of TAK1 complex RSV-host interactions Caspase activation via Death Receptors in the presence of ligand MyD88-independent TLR4 cascade TRIF-mediated programmed cell death IKK complex recruitment mediated by RIP1 TRAF6-mediated induction of TAK1 complex within TLR4 complex IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation TNFR2 non-canonical NF-kB pathway TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway Ovarian tumor domain proteases

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Pipeline de tratamentos
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3Fase 34
2Fase 28
1Fase 15
·Pré-clínico12
Medicamentos catalogadosEnsaios clínicos· 9 medicamentos · 20 ensaios
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Ensaios clínicos abertos e novidades científicas recentes

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Outros ensaios clínicos

418 ensaios clínicos encontrados, 27 ativos.

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Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
23.325 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 23.325

#1

Fixel-Based Analysis of Pretreatment MRI Identifies White Matter Abnormalities in Pediatric Anti-NMDAR Encephalitis.

Journal of child neurology2026 Mar 25

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an autoimmune disorder in which conventional MRI often appears normal, leading to clinical-radiologic dissociation and hindering early diagnosis and monitoring. We retrospectively studied five pediatric patients with anti-NMDAR encephalitis and compared their pretreatment diffusion MRI to age- and sex-matched controls. Using fixel-based analysis (FBA), we quantified tract-specific white matter abnormalities at the individual level. All patients showed significantly reduced fiber density and cross-section, with patterns ranging from focal to widespread involvement. In two patients, FBA abnormalities corresponded to seizure lateralization on EEG despite normal MRI, emphasizing FBA's added value in detecting seizure-concordant injury. One patient, exhibiting the highest disease burden and marked CSF pleocytosis, demonstrated extensive white matter tract disruption. These findings indicate that FBA derived from pretreatment MRI can identify clinically significant white matter injury at disease onset in pediatric anti-NMDAR encephalitis. Future large-scale studies should explore its potential as an individualized biomarker, which may offer diagnostic and prognostic value beyond conventional imaging.

#2

[18F]Fluorodeprenyl-D2 PET as a Tool to Monitor Disease Activity in GAD65-Ab Autoimmune Encephalitis.

Annals of clinical and translational neurology2026 Mar 24

To evaluate [18F]fluorodeprenyl-D2 ([18F]F-DED) positron-emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. [18F]F-DED PET was performed in 25 GAD65-AIE patients and 8 controls using dynamic (0-60 min) and static (30-60 min) acquisitions. Global astrogliosis was assessed by volumes of distribution (VT; 1-tissue-compartment model with carotid input) and standardized uptake values (SUV). Regional cerebellar and mesiotemporal (MT) uptake was normalized to global uptake (SUVr). PET measures were correlated with clinical phenotypes, MRI findings, and serum biomarkers (neurofilament light chain [sNfL], GAD65-Ab titers, and glial fibrillary acidic protein [sGFAP]). Clinical phenotypes included limbic encephalitis/temporal lobe epilepsy (LE/TLE; n = 17), stiff-person syndrome (n = 4), and cerebellar ataxia (CA; n = 4), with overlap in nine patients. Global [18F]F-DED uptake was higher in patients than controls. VT analysis showed increased cortical and MT uptake, while SUVr analysis demonstrated elevated MT uptake across the cohort. LE/TLE patients exhibited increased MT uptake, and CA patients showed higher cerebellar uptake. [18F]F-DED uptake did not correlate with sNfL or GAD65-Ab titers, but sGFAP showed associations with cerebellar and white-matter uptake. Regional uptake correlated with clinical severity in LE/TLE (MT lobe) and CA (cerebellar white matter). [18F]F-DED PET reveals region-specific astrogliosis corresponding to clinical manifestations and disease severity in GAD65-AIE, supporting its potential as a monitoring tool for disease activity.

#3

Population-Based Epidemiology of Autoimmune Seizures and Epilepsies.

Annals of neurology2026 Mar 24

To estimate the prevalence, incidence, and disease burden of autoimmune seizures and epilepsies in Olmsted County. We conducted a retrospective, population-based study using the Rochester Epidemiology Project (1996-2019). Age- and sex-standardized rates (2019 United States standard population) per 100,000 were calculated with 95% confidence intervals (95% CIs). Temporal trends in incidence were assessed over 3 consecutive 8-year intervals (1996-2003, 2004-2011, and 2012-2019) using Poisson regression to estimate rate ratios per period and trend. Disability-adjusted life years (DALYs), years of life lost (YLL), and years lived with disability (YLD) and 95% uncertainty intervals (95% UIs) were estimated for 2019. Twenty-three patients were identified between 1996 and 2019. In 2019, the standardized prevalence of all autoimmune seizures and epilepsies was 9.81 (95% CI, 5.59-15.21) per 100,000, including autoimmune-associated epilepsy (AAE) 7.27 (3.74-11.95) and acute symptomatic seizures secondary to autoimmune encephalitis (ASSAE) 2.55 (0.69-5.60). From 1996 to 2019, the standardized incidence was 0.50 (0.29-0.77) per 100,000 person-years overall, with AAE 0.36 (0.19-0.59) and ASSAE 0.15 (0.05-0.30). By period, the standardized incidence of all autoimmune seizures and epilepsies suggested a rising trend from 0.28 (95% CI, 0.06-0.68) in 1996 to 2003 to 0.60 (95% CI, 0.24-1.12) in 2004-2011, then plateaued at 0.53 (95% CI, 0.21-1.00) in 2012 to 2019 (rate ratio per 8-year interval 1.30, 95% CI, 0.71-2.38), largely driven by the seropositive subgroup. The standardized DALY rate was 26.27 (95% Uncertainly intervals [UI], 5.30-67.09) per 100,000 (YLL 20.07 [0.00-60.21] and YLD 6.20 [5.06-7.39]). Although autoimmune seizures and epilepsies remain rare, they result in a disproportionately high disease burden. ANN NEUROL 2026.

#4

Inactivated Japanese encephalitis virus vaccination imprints fusion loop-biased antibody responses that are attenuated by repeated live-attenuated dengue vaccination.

medRxiv : the preprint server for health sciences2026 Mar 02

Immune imprinting, also known as immune history, is a core aspect of adaptive immunity that influences antibody responses to future antigen exposures. Nevertheless, the impact of sequential flavivirus vaccinations on epitope targeting and antibody activity in humans remains incompletely understood. This question is particularly important in regions where the inactivated Japanese encephalitis virus (JEV) vaccines and the live-attenuated dengue virus (DENV) vaccines are used, as both have been associated with an increased risk of symptomatic dengue infection and severe illness. We studied the impact of prior inactivated JEV IXIARO vaccination and simultaneous vaccination on humoral immunity following live-attenuated dengue CYD-TDV vaccination. Long-term analysis showed that JEV IXIARO priming guides the dengue vaccine-induced antibody response toward conserved fusion loop epitopes (FLEs) of the DENV envelope protein, as indicated by 4G2 FLE-bias. This imprinting was characterized by higher levels of 4G2 FLE-like antibodies, rapid recall responses after dengue vaccination, and broad but low-potency neutralization across dengue serotypes and Zika virus. Notably, 4G2 FLE-focused responses correlated with higher FcγRIIa-mediated antibody-dependent enhancement relative to neutralization potency, suggesting functional effects beyond neutralization. To better understand epitope dominance within the native envelope, we used a structurally defined fusion loop epitope mutant (FLE-mut) envelope dimer assay. Disrupting fusion loop accessibility significantly decreased antibody binding, confirming that FLE-specific antibodies are a major component of the response after sequential vaccination. Importantly, a complete series of live-attenuated dengue vaccine reduced 4G2 FLE bias, encouraged the recruitment of non-fusion-loop epitopes, and lessened FcγRIIa-biased antibody activity. Overall, these results show that vaccination platform, timing, and regimen are critical determinants of epitope dominance and antibody quality following flavivirus vaccination.

#5

Clinico-etiological profile and prognostic factors of acute febrile encephalopathy in children: a prospective study from Indian subcontinent.

Journal of tropical pediatrics2026 Feb 09

Acute febrile encephalopathy (AFE) is a common neurological emergency in all age groups. In tropical regions, long-standing infections such as Japanese encephalitis and bacterial meningitis continue to be major causes of AFE, while changing presentations of familiar infections and newly emerged diseases like COVID-19 are also becoming increasingly notable. To describe various clinical presentations, etiology and mortality of AFE in pediatric age group. This prospective observational study was undertaken in a tertiary care institute of Northern India from April 2022 to April 2023. Children aged 1 month to 18 years presenting to the pediatric emergency department with fever of <2 weeks duration and altered sensorium lasting >24 hours were eligible for inclusion. A total of 100 patients (49% males) with AFE were enrolled. The mean (SD) duration of encephalopathy was 1.39 (0.69) days. The most frequent etiologies were viral encephalitis (17%), dengue encephalopathy (12%), and hepatic encephalopathy (9%). The peak incidence occurred between August and November. The overall case fatality rate was 33%. Under-5 children with severe acute malnutrition (SAM) had the highest fatality rate (56%, 9/16). Among survivors, 16% (11/67) had poor functional outcomes. Higher odds of mortality were observed in patients with a Glasgow coma scale score <8, hypoglycemia at admission, requirement for mechanical ventilation or inotropic support, and presence of multiorgan dysfunction. AFE demonstrates a predictable seasonal pattern and is associated with high mortality and morbidity, particularly in under-5 children with SAM, who represent the most vulnerable group.

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Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Fixel-Based Analysis of Pretreatment MRI Identifies White Matter Abnormalities in Pediatric Anti-NMDAR Encephalitis.
    Journal of child neurology· 2026· PMID 41878763mais citado
  2. [18F]Fluorodeprenyl-D2 PET as a Tool to Monitor Disease Activity in GAD65-Ab Autoimmune Encephalitis.
    Annals of clinical and translational neurology· 2026· PMID 41876947mais citado
  3. Population-Based Epidemiology of Autoimmune Seizures and Epilepsies.
    Annals of neurology· 2026· PMID 41876839mais citado
  4. Inactivated Japanese encephalitis virus vaccination imprints fusion loop-biased antibody responses that are attenuated by repeated live-attenuated dengue vaccination.
    medRxiv : the preprint server for health sciences· 2026· PMID 41867205mais citado
  5. Clinico-etiological profile and prognostic factors of acute febrile encephalopathy in children: a prospective study from Indian subcontinent.
    Journal of tropical pediatrics· 2026· PMID 41866134mais citado
  6. Anti-Glutamic Acid Decarboxylase 65 (Anti-GAD65) Autoimmune Encephalopathy: A Case of Diagnostic and Treatment Challenge.
    Cureus· 2026· PMID 41994747recente
  7. Evidence of West Nile virus exposure in healthy donors and a clinical case in an immunocompromised child: emerging public health implications.
    Front Med (Lausanne)· 2026· PMID 41994437recente
  8. Intraventricular hemorrhage, suspected EBV reactivation, and TBA-positive epilepsy after deep cervical lymphovenous anastomosis in Alzheimer's disease: a case report.
    Front Aging Neurosci· 2026· PMID 41994193recente
  9. One health perspectives on the epidemiological features and changing incidence of natural focus and vector-borne infectious diseases in China: An observational trend study.
    One Health· 2026· PMID 41993771recente
  10. Human antibodies against West Nile and related orthoflaviviruses.
    bioRxiv· 2026· PMID 41993435recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:97275(Orphanet)
  2. MONDO:0019956(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q199615(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Encefalite
Compêndio · Raras BR

Encefalite

ORPHA:97275 · MONDO:0019956
CID-10
A86 · Encefalite viral, não especificada
Ensaios
27 ativos
Medicamentos
9 registrados
MedGen
UMLS
C0014038
Repurposing
1 candidato
diclazurilantiprotozoal agent
Wikidata
Wikipedia
Papers 10a
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