Uma doença infecciosa que envolve o sistema nervoso.
Introdução
O que você precisa saber de cara
Uma doença infecciosa que envolve o sistema nervoso.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 240 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 471 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição.
Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as an agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also
Cell membraneGolgi apparatus
Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC
Cell membraneEndoplasmic reticulum membraneGolgi apparatus, trans-Golgi network membraneEndosome membraneLysosome membrane
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
NucleusNucleus membraneNucleus, nuclear pore complexNucleus envelope
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.
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
Cytoplasm
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.
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
Endoplasmic reticulum membraneEndosome membraneEarly endosome
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.
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
Cytoplasmic vesicle, autophagosomeCytoplasm, cytosolMitochondrion
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.
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
CytoplasmEndosomeMitochondrion
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.
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
Endoplasmic reticulum membraneEndosomeLysosomeCytoplasmic vesicle, phagosome
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.
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)
Mitochondrion inner membrane
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.
Medicamentos e terapias
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Adrenergic receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Serotonin transporter inhibitor
Mecanismo: IL6Ralpha/GP130 antagonist
Mecanismo: Succinate semialdehyde dehydrogenase inhibitor
Variantes genéticas (ClinVar)
392 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
80 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença infecciosa do sistema nervoso
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Mild SARS-CoV-2 maternal infection in mice induces transient offspring neurodevelopmental aberrance.
Este estudo em ratos sugere que, mesmo uma infecção materna *leve* por SARS-CoV-2 durante a gravidez, pode causar inflamação placentária e alterações *temporárias* no desenvolvimento cerebral inicial da prole. No entanto, o mais importante para pacientes e médicos é que essas alterações se resolveram por si mesmas e não resultaram em problemas comportamentais ou neurológicos duradouros nos filhotes, indicando um impacto a longo prazo limitado.
🇧🇷 traduzidoThe Anti-Apoptotic Activity of β-Synuclein Mediated via Akt Signaling Is Severely Lost During Prion Infection.
Este estudo revela que a beta-sinucleína, uma proteína que normalmente protege as células cerebrais da morte (apoptose) através da sinalização Akt, perde gravemente sua função protetora durante a infecção por príon. Essa descoberta indica uma vulnerabilidade intrínseca dos neurônios nas doenças priônicas e sugere que restaurar essa atividade protetora poderia ser uma nova e promissora estratégia terapêutica para pacientes.
🇧🇷 traduzidoHIV Infection, Neurotoxicity, Inflammation, Premature Aging, and Therapeutic Challenges to PLWH: An Overview.
Este artigo destaca que, mesmo com o tratamento antirretroviral (ART) moderno suprimindo o HIV no corpo, o vírus persiste no sistema nervoso central (SNC) devido à penetração limitada dos medicamentos e à sua capacidade de se esconder. Essa persistência, juntamente com a inflamação crônica e a neurotoxicidade, acelera o envelhecimento cerebral, o que contribui para o desenvolvimento de transtornos neurocognitivos associados ao HIV (HAND) em quase metade dos pacientes, mesmo com carga viral controlada. Para pacientes e médicos, isso significa que é crucial monitorar a saúde cerebral e abordar esses desafios para melhorar a qualidade de vida a longo prazo.
🇧🇷 traduzidoAlpha-Synuclein in Neurodegeneration: From Shared Biology to Disease-Specific Phenotypes.
Este artigo destaca que a alfa-sinucleína (αSyn) é uma proteína central em diversas doenças neurodegenerativas, como Parkinson, demência com corpos de Lewy e atrofia de múltiplos sistemas. Ele explica que a variedade de como essas doenças se manifestam clinicamente em cada paciente depende de uma complexa interação de fatores, e não apenas da αSyn isoladamente. Compreender essa multidimensionalidade é crucial para o desenvolvimento de novos biomarcadores e terapias de precisão, que permitirão diagnósticos mais acurados e tratamentos mais personalizados para pacientes com essas condições.
🇧🇷 traduzidoA Novel Competing Endogenous RNA Linked to Dysregulated Neuroinflammation in Alzheimer's Disease.
Pesquisadores identificaram um novo RNA longo não codificante, denominado LIMASI, que está elevado no cérebro de pacientes com Alzheimer (DA) e modelos da doença, correlacionando-se com a progressão da patologia (placas amiloides, tau) e com o aumento da neuroinflamação. O LIMASI parece atuar sequestrando microRNAs pró-inflamatórios, modulando a resposta inflamatória, o que sugere que ele pode ser um novo alvo terapêutico promissor para reduzir a neuroinflamação e potencialmente retardar a neurodegeneração associada ao Alzheimer.
🇧🇷 traduzidoPublicações recentes
T Cells Inhibit Hippocampal Regeneration in Mice Following Trimethyltin-Induced Neurodegeneration.
Mild SARS-CoV-2 maternal infection in mice induces transient offspring neurodevelopmental aberrance.
The Anti-Apoptotic Activity of β-Synuclein Mediated via Akt Signaling Is Severely Lost During Prion Infection.
HIV Infection, Neurotoxicity, Inflammation, Premature Aging, and Therapeutic Challenges to PLWH: An Overview.
Alpha-Synuclein in Neurodegeneration: From Shared Biology to Disease-Specific Phenotypes.
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European journal of immunologyLipoxin B4 Mitigates TRPV4-Activated Müller Cell Gliosis During Ocular Hypertension.
Investigative ophthalmology & visual scienceInborn errors of autophagy underlying severe viral infections in humans.
Current opinion in virologyHeated tobacco and cigarette smoke modulate CD4 + T cell activation and neuroinflammation in a context-dependent manner.
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Acta histochemicaIndoleamine 2,3-Dioxygenase: A Potential Biomarker for Neural Damage Severity of Leprosy Neuropathy.
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Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious DiseasesAssociation of increased cortical thickness and cognitive impairment in patients with Kallmann syndrome.
European journal of endocrinologyIDO family: the metabolic crossroads connecting immunity, nerves and tumors.
Journal of translational medicinePrion seeding activity in DNA extractions: implications for laboratory biosafety.
PrionHeart rate variability reflects endoscopic activity and systemic inflammation in patients with Crohn's disease.
Frontiers in medicineUse of a Cystatin C-Based GFR Equation in a Population Pharmacokinetic Model of Methotrexate Clearance in Adult Patients with Lymphoma.
Clinical pharmacokineticsIntestinal macrophages modulate synucleinopathy along the gut-brain axis.
NaturePathogenesis and Research Models of Acute Influenza-Associated Encephalitis/Encephalopathy: An Update.
VirusesSynergy of SARS-CoV-2 and HIV-1 Infections in the Human Brain.
Pathogens (Basel, Switzerland)SHIV.D Infection Alters Production and Protein Composition of Myeloid-Derived Extracellular Vesicles.
International journal of molecular sciencesNeurobrucellosis in an 11-year-old child: A rare case report of brain microabscesses from an endemic region.
The Journal of international medical researchHigh prevalence of polypharmacy and nervous system medications in people with HIV: a cross-sectional analysis.
Scientific reportsMicroglia replacement by ER-Hoxb8 conditionally immortalized macrophages provides insight into Aicardi-Goutières syndrome neuropathology.
eLifeTransverse Comparison of Clinical Characteristics and Prognostic Factors in HIV-Infected Patients with Cytomegalovirus Encephalitis in Guangdong, China.
Current HIV researchThe next-generation polyene EL219 is efficacious in an experimental model of central nervous system coccidioidomycosis caused by Coccidioides immitis.
Antimicrobial agents and chemotherapyAntimicrobial peptides act as a component of brain immunity against microbes in Alzheimer's disease.
Advances in protein chemistry and structural biologyBradyzoite subtypes rule the crossroads of Toxoplasma development.
Nature communicationsTargeting HMGB1 in Microglia Alleviates Neuroinflammation and Modulates the Pro-/Anti-inflammatory Balance of Microglia/Macrophages in Experimental Autoimmune Encephalomyelitis.
Molecular neurobiologyComparative assessment of immunochromatographic test kits using low-molecular-weight antigens from cyst fluids of two different genotypes of Taenia solium for serodiagnosis of human cysticercosis.
Parasite (Paris, France)Identification of Chlamydia pneumoniae and NLRP3 inflammasome activation in Alzheimer's disease retina.
Nature communicationsSmog, sugar, and synapses: Unraveling the PM2.5-insulin resistance-Alzheimer's disease axis.
Redox biology[Genotypic diversity of the varicella-zoster virus (Herpesviridae: Varicellovirus) and human gene variants as risk factors for severe disease].
Voprosy virusologiiThe epidemiology and clinical features of HIV and Trypanosoma cruzi (Chagas disease) co-infection: A systematic review and individual patient data analysis.
PLoS neglected tropical diseasesUveitis Characteristics and Risk of Developing Central Nervous System Inflammatory Disease: A Retrospective Cohort Study.
Ocular immunology and inflammationRift Valley fever virus activates multiple cell death pathways in neurons.
Journal of virologySalivary cortisol in long COVID: a marker of broader stress system and circadian rhythm dysregulation.
Frontiers in cellular and infection microbiologyNeurogenesis decreases in the offspring of mothers infected with influenza A virus.
Frontiers in cellular and infection microbiologyCase Report: A rare pediatric case of hepatitis B virus infection with acute disseminated encephalomyelitis/Guillain-Barré syndrome spectrum diseases.
Frontiers in pediatricsInfection as a potential trigger in glial fibrillary acidic protein astrocytopathy: a case report and review of immunotherapeutic strategies.
BMC neurologyBorrelia burgdorferi-Induced Neuroinflammation in Lyme Disease: A Potential Driver of Alzheimer's Disease Pathology?
Molecular neurobiologyTreponema pallidum's neural invasion: from blood-brain barrier breach to immune sabotage.
Infection and immunityNew-onset refractory status epilepticus associated with Sjögren's disease.
BMJ neurology openOverexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness.
Acta neuropathologica communicationsAnti-aging and Anti-inflammatory Dietary Interventions in Multiple Sclerosis: A Narrative Review.
Neurology and therapyInflammation-induced Neuronal Damage in CNS Tuberculosis: Molecular Mechanism and Therapeutic Targets.
Brain researchStrain Traits of Intracranially Administered L-Type Bovine Spongiform Encephalopathy Prions Are not Significantly Modified During Intraspecies Transmission in Cynomolgus Monkeys.
Microbiology and immunologyDiagnosing progressive multifocal leukoencephalopathy: clinical features, neuroimaging findings, confirmatory testing and proposed diagnostic algorithm.
Practical neurologyNeuron-specific overexpression of human vasoactive intestinal peptide receptor 2 in mice causes cognitive dysfunction and abnormal dendritic morphology in the prefrontal cortex.
Journal of pharmacological sciencesStrongyloides stercoralis: From chronic silent infection to fulminant catastrophe.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesAdrenal and Metabolic Hormonal Axes Shape Anti-Tuberculosis Immune Responses in Human Immunodeficiency Virus-Tuberculosis Coinfection.
NeuroimmunomodulationEarly Diagnostic Value of Contrast-Enhanced MRI in Distinguishing Toxoplasmic Encephalitis from CNS Lymphoma: A Case Report of AIDS with Seronegative Toxoplasmosis.
Journal of the International Association of Providers of AIDS CareNeuromyelitis Optica Spectrum Disorder Developing after COVID-19 Vaccination Managed with Long-Term Eculizumab Treatment: A Case Report.
Case reports in neurologyMulti-Pathogen Knee Infection, Including Treponema pallidum and Brucella: A Case Report.
The American journal of case reportsWest Nile virus: epidemiology, prevention, clinical features, diagnosis, treatment, and open research questions.
Annals of medicineParasitic and fungal central nervous system infections in hospitalised adults living with HIV in Libreville, Gabon: clinical profiles to inform syndromic triage in resource limited settings.
AIDS research and therapyCentral nervous system complications: atypical manifestation of Lemierre syndrome.
BMC neurologyRapidly progressing idiopathic neutrophilic vasculitis with fibrinoid necrosis of the central nervous system.
BMJ case reportsHigh Temporal-Resolution Imaging Single Immune Cell Migration in Vivo by Ultrabright NIR-II Organic Probes.
Advanced materials (Deerfield Beach, Fla.)How to Treat Carbapenem-Resistant Acinetobacter baumannii Infections: Current Knowledge and Personal Viewpoints.
Infectious disease clinics of North AmericaCryptococcus neoformans causing localised osteomyelitis of the right anterior rib.
BMJ case reportsMyelin antigen capture in the CNS by B cells expressing EBV latent membrane protein 1 leads to demyelinating lesion formation.
CellHabitual Coffee Consumption and Systemic Health Outcomes: A Comprehensive Review.
CureusCompassionate Use of Olorofim for Invasive Mold Infections: A Nationwide Observational Study in France.
Open forum infectious diseasesWalnut peptide and theanine combination ameliorates sleep disorders: a multi-species study including a human trial.
Food & functionFirst detection of Usutu virus in wild birds in Denmark, 2024.
Scientific reportsElucidating the biological characteristics of overweight populations based on urine Raman spectroscopy and bioinformatics analysis.
Spectrochimica acta. Part A, Molecular and biomolecular spectroscopyHIV expression persists in the cerebrospinal fluid of HIV-associated neurocognitive disorders despite effective ART.
Emerging microbes & infectionsJapanese Encephalitis: a case of remarkable recovery after 68 days of ICU admission in a 30 -years-old-male.
BMC infectious diseasesPromoting the nuclear retention of HMGB1 attenuates astrocyte senescence.
Journal of neuroinflammationInapparent maternal ZIKV infection impacts fetal brain development and postnatal behavior.
PLoS pathogensMetabolites released from apoptotic cells in central nervous system orchestrates the pathological process of Alzheimer disease through improving autophagy.
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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.
- Mild SARS-CoV-2 maternal infection in mice induces transient offspring neurodevelopmental aberrance.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41849379mais citado
- The Anti-Apoptotic Activity of β-Synuclein Mediated via Akt Signaling Is Severely Lost During Prion Infection.
- HIV Infection, Neurotoxicity, Inflammation, Premature Aging, and Therapeutic Challenges to PLWH: An Overview.
- Alpha-Synuclein in Neurodegeneration: From Shared Biology to Disease-Specific Phenotypes.
- A Novel Competing Endogenous RNA Linked to Dysregulated Neuroinflammation in Alzheimer's Disease.
- T Cells Inhibit Hippocampal Regeneration in Mice Following Trimethyltin-Induced Neurodegeneration.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98010(Orphanet)
- MONDO:0020010(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q10336461(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
