A doença de Alexander tipo I (AxD tipo I) é uma astrogliopatia e a forma mais grave e comum da doença de Alexander (AxD), apresentando-se antes dos 4 anos de idade e caracterizada por convulsões, megalencefalia e atraso no desenvolvimento com deterioração progressiva.
Introdução
O que você precisa saber de cara
A doença de Alexander tipo I (AxD tipo I) é uma astrogliopatia e a forma mais grave e comum da doença de Alexander (AxD), apresentando-se antes dos 4 anos de idade e caracterizada por convulsões, megalencefalia e atraso no desenvolvimento com deterioração progressiva.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 22 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
1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.
GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells
Cytoplasm
Alexander disease
A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes.
Variantes genéticas (ClinVar)
264 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 176 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 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 de Alexander, tipo I
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Title: Symptomatic hypocalcemia is uncommon in patients with liver disease undergoing low-volume plasma exchange by centrifugal technique.
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VirulenceInterstitial Lung Disease Associated with Autoimmune Rheumatic Diseases: An Experience from Türkiye.
European journal of rheumatologySeizure Activity and Hypoxia Differentially Regulate Endogenous Neurotrophic Activin A and Neuroglobin Expression in the Immature Mouse Brain.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceRacial Differences in Length of Stay After Atrial Fibrillation Ablation.
Pacing and clinical electrophysiology : PACEBrain Endothelial Soluble ST2 Production and Cerebral Edema in a Rat Model of Ischemic Stroke.
Annals of neurologySaccharomyces cerevisiae as a Model for Reprogramming of Eukaryotic Cells: Implications for the Study of the Relationship Between Metabolism and Inflammation in Chronic Disease.
Cell biochemistry and biophysicsSerum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1.
Genetics in medicine openBest Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.
Cerebellum (London, England)A scoping review protocol: Neuropsychological development in pediatric ophthalmology patients with social determinants of health analysis.
PloS oneMalignant triton tumor of the common bile duct.
Clinical journal of gastroenterologyPrognostic impact of the choice of chemotherapy after first-line CDK4/6 inhibitor therapy in patients with metastatic hormone receptor-positive, HER2-negative breast cancer.
European journal of cancer (Oxford, England : 1990)Epigenetic liquid biopsies reveal endothelial turnover and erythropoiesis in asymptomatic COVID-19.
Life science allianceChanges in prescribing patterns and access to immune checkpoint inhibitors in german lung cancer patients - a claims data analysis.
BMC public healthMutations in GFAP Alter Early Lineage Commitment of Organoids.
GliaFunctional Autoantibodies Targeting G-Protein-Coupled Receptors and Their Clinical Phenotype in Patients with Long-COVID.
International journal of molecular sciencesPrevalence and survival outcomes of adult T-cell leukemia/lymphoma in Latin America: A multicenter cohort study and recommendations to improve diagnosis and outcomes.
Cancer epidemiologyCo-occurrence of multiple pathologies in a case of frontotemporal dementia with TBK1 mutation: first in vivo detection of alpha-synuclein and tau co-pathology.
Acta neuropathologica communicationsDifferential molecular signatures in response to CD19-CAR T cell therapy compared with conventional pharmacotherapy in systemic lupus erythematosus.
Annals of the rheumatic diseasesCYP1B1 knockout enhanced IFN-γ production is required but not sufficient for protection of cigarette smoke-exposed mice against lethal influenza virus infection.
Frontiers in immunologyGenotype and transcript processing of the tumour necrosis factor receptor TNFRSF1A in epithelial cells: implications for survival in cystic fibrosis.
EBioMedicineLongitudinal measurements of NO-mediated vasodilation and physical activity over 1 yr following endometriosis excision surgery: a passive experiment.
Journal of applied physiology (Bethesda, Md. : 1985)Impaired Autophagic Flux in Skeletal Muscle of Plectin-Related Epidermolysis Bullosa Simplex With Muscular Dystrophy.
Journal of cachexia, sarcopenia and muscleComparative Prognosis by Stress ECG and Stress Imaging: Results From the ISCHEMIA Trial.
JACC. Cardiovascular imagingGene therapy enhances deoxyribonuclease I treatment in antimyeloperoxidase glomerulonephritis.
JCI insightBiofabrication of a Filtration Barrier by Integrating Electrospun Membranes and Flow in a Glomerular Co-Culture.
Advanced healthcare materialsLoss of NR2F6 Protects from Salmonella Typhimurium Infection.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Humoral vaccine responses following Chimeric Antigen Receptor T-cell therapy for hematological malignancies.
Blood cancer journalMast cells infiltrates are common in eosinophilic esophagitis and still elevated in histological remission: A digital evaluation in children.
Journal of pediatric gastroenterology and nutritionRelationship between hydroxychloroquine blood levels and lupus activity through the lens of the type 1 and type 2 lupus model: a cross-sectional study.
Lupus science & medicineOgerin Inhibits Development of Post-Operative Abdominal Adhesions in a Murine Model.
Journal of pediatric surgeryUS Public Health Gains from Improved Treatment of Hypercholesterolemia: A Simulation Study of NHANES Adults Treated to Guideline-Directed Therapy.
Journal of general internal medicineSmall U-Net for Fast and Reliable Segmentation in Imaging Flow Cytometry.
Cytometry. Part A : the journal of the International Society for Analytical CytologyInfrapopliteal bypass surgery in the endovascular era.
VASA. Zeitschrift fur GefasskrankheitenLetermovir prophylaxis for cytomegalovirus infection in hematopoietic transplantation with post-transplant cyclophosphamide.
MedicinaBeyond the Scale: The Hidden Burden of Underweight and Cachexia in Adults with Congenital Heart Defects and Heart Failure-Results from the Pathfinder CHD-Registry.
Journal of clinical medicineThe SGLT2 Inhibitor Empagliflozin Mitigates the Harmful Effects of Methylglyoxal Exposure on Ovalbumin-Induced Mouse Airway Inflammation.
International journal of molecular sciencesCrosstalk between oxidative stress, mitochondrial dysfunction, chromosome instability, and the activation of the cGAS-STING/IFN pathway in systemic sclerosis.
Ageing research reviewsConsensus Guideline for the Management of Patients with Appendiceal Tumors, Part 2: Appendiceal Tumors with Peritoneal Involvement.
Annals of surgical oncologyThe Epidemiology of Cervical Cancer in Germany: A Registry-Based Analysis of Incidence, Survival, and Tumor Characteristics (2003–2021).
Deutsches Arzteblatt internationalConvergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale.
Journal of child neurologyWhat Is the Cumulative Incidence of Femoral Stem Revision and Stem Complication in Cemented and Uncemented Hip Arthroplasty for Proximal Femoral Metastatic Bone Disease?
Clinical orthopaedics and related researchUltra-fast MRI for dementia diagnosis and treatment eligibility: A prospective study.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationClinical and microbiological characteristics of pediatric patients hospitalized for pneumococcal pneumonia before and after the introduction of pneumococcal conjugate vaccines.
Revista peruana de medicina experimental y salud publicaPrognostic Significance of Macrophage Phenotypes in Peri-Tumoral Normal Tissue of Early-Stage Breast Cancer.
CellsSitagliptin as a therapeutic approach for social anxiety disorder: the role of DPP4 and NPY in modulating social fear and comorbid depressive-like behavior in mice.
Neuropsychopharmacology : official publication of the American College of NeuropsychopharmacologyCOL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.
Kidney international reportsChemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3.
Kidney internationalHigh-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins.
AngiogenesisFinerenone with Empagliflozin in Chronic Kidney Disease and Type 2 Diabetes.
The New England journal of medicineSingle cell profiling of human airway identifies tuft-ionocyte progenitor cells displaying cytokine-dependent differentiation bias in vitro.
Nature communicationsSuccessful Anesthetic Management for Laparoscopic Gynecological Surgery in Adult-Onset Alexander's Disease: A Case Report.
CureusThe emerging role of GlycoRNAs in immune regulation and recognition.
Immunology lettersThe Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.
The Journal of pediatricsHypertension Canada guideline for the diagnosis and treatment of hypertension in adults in primary care.
Canadian pharmacists journal : CPJ = Revue des pharmaciens du Canada : RPCEfficacy and safety of rigosertib in patients with recessive dystrophic epidermolysis bullosa-associated advanced/metastatic cutaneous squamous cell carcinoma.
The British journal of dermatologyAnalysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.
Nature communicationsImpact of surgical case load on recurrence rates in pilonidal sinus disease: a cross-study data synthesis.
International journal of colorectal diseaseA suite of enhancer AAVs and transgenic mouse lines for genetic access to cortical cell types.
CellExtracorporeal Shock Wave Therapy for Chronic Adhesive Capsulitis in Type 2 Diabetics: A Systematic Review With Meta-Analysis.
Physical therapyDominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nature geneticsTargeting interferon responses in juvenile dermatomyositis: Siglec-1 as an in vitro biomarker for JAK inhibitor efficacy.
Rheumatology (Oxford, England)HPDL Variant Type Correlates With Clinical Disease Onset and Severity.
Annals of clinical and translational neurologyChanges in Chronic Graft-versus-Host Disease Treatment Over Time: A 15-Years Survey Within Allogeneic Hematopoietic Stem Cell Transplant Centers in Germany, Austria, and Switzerland.
Transplantation and cellular therapyGlands of Moll: history, current knowledge and their role in ocular surface homeostasis and disease.
Progress in retinal and eye researchMulti-Epitope DC Vaccines with Melanoma Antigens for Immunotherapy of Melanoma.
VaccinesInflammatory Skin Diseases: The Importance of Immunological Signatures.
Deutsches Arzteblatt internationalBilateral vestibulopathy in Alexander disease type II- a case report.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryCase Finding for Celiac Disease With a Point-of-Care Test.
PediatricsBridging acute and chronic stress effects on inflammation: protocol for a mixed-methods intensive longitudinal study.
BMC psychologyCD55 upregulation in T cells of COVID-19 patients suppresses type-I interferon responses.
Communications biologyCell type mapping of mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy using single-nucleus multiomics.
EpilepsiaPolymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.
bioRxiv : the preprint server for biologyUrinary sodium wasting and disrupted collecting duct function in mice with distal renal tubular acidosis mutations.
Disease models & mechanismsAssociações
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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.
- VIKTORIA-1 Trial of Gedatolisib Plus Fulvestrant With or Without Palbociclib in Hormone Receptor-Positive/HER2-/PIK3CA Wild-Type Advanced Breast Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology· 2026· PMID 41802242mais citado
- Title: Symptomatic hypocalcemia is uncommon in patients with liver disease undergoing low-volume plasma exchange by centrifugal technique.Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis· 2026· PMID 41762819mais citado
- Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.
- Epidemiology of adult T-cell leukemia/lymphoma (ATL) in people living with HTLV-1: A 30-year study in Peru.
- Daratumumab in systemic lupus erythematosus: a single-arm phase 2 trial.
- Re: Chase Peng Yun Ng, Alexander Light, Sai Kalpitha Eragamreddy, et al. Five-year Outcomes for Men after Negative Magnetic Resonance Imaging (MRI) or Negative Biopsy in the RAPID MRI-directed Prostate Cancer Diagnostic Pathway. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2025.10.015.
- The dominance of large-scale phase dynamics in human cortex, from delta to gamma.
- Four new species of Dasymallomyia Brunetti (Diptera, Limoniidae, Chioneinae) from China.
- Gross anatomy of the skeleton of neonates of the Orinoco Matamata turtle (Chelus orinocensis).
- Defining the Prominent Ear: Anthropometric Profile of Prominent and Normal Ears in the Arabian Peninsula.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:363717(Orphanet)
- MONDO:0018209(MONDO)
- GARD:17572(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55346029(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
