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Buscar doenças, sintomas, genes...
Doença de Alexander, tipo I
ORPHA:363717CID-10 · G93.8CID-11 · 8A44.2DOENÇA RARA

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.

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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.

Publicações científicas
4.578 artigos
Último publicado: 2026 Apr 8

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G93.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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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

🧠
Neurológico
11 sintomas
🫃
Digestivo
2 sintomas
📏
Crescimento
2 sintomas
🦴
Ossos e articulações
1 sintomas
💪
Músculos
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

90%prev.
Morfologia anormal da substância branca cerebral
Muito frequente (99-80%)
90%prev.
Lesão focal hiperintensa em T2 nos gânglios da base
Muito frequente (99-80%)
55%prev.
Escoliose
Frequente (79-30%)
55%prev.
Sinal piramidal anormal
Frequente (79-30%)
55%prev.
Intensidade anormal do sinal de RM talâmica
Frequente (79-30%)
55%prev.
Déficit de crescimento
Frequente (79-30%)
22sintomas
Muito frequente (2)
Frequente (8)
Ocasional (8)
Muito raro (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 22 características clínicas mais associadas, ordenadas por frequência.

Morfologia anormal da substância branca cerebralAbnormal cerebral white matter morphology
Muito frequente (99-80%)90%
Lesão focal hiperintensa em T2 nos gânglios da baseFocal T2 hyperintense basal ganglia lesion
Muito frequente (99-80%)90%
EscolioseScoliosis
Frequente (79-30%)55%
Sinal piramidal anormalAbnormal pyramidal sign
Frequente (79-30%)55%
Intensidade anormal do sinal de RM talâmicaAbnormal thalamic MRI signal intensity
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico4.578PubMed
Últimos 10 anos200publicações
Pico2025120 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
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

1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.

GFAPGlial fibrillary acidic proteinDisease-causing germline mutation(s) (gain of function) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (1)
Chaperone Mediated Autophagy
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Brain Spinal cord cervical c-1
9333.8 TPM
Substância negra
3372.0 TPM
Hipotálamo
2922.2 TPM
Hipocampo
1638.7 TPM
Cérebro - Amígdala
1354.5 TPM
OUTRAS DOENÇAS (3)
Alexander diseaseAlexander disease type IAlexander disease type II
HGNC:4235UniProt:P14136

Variantes genéticas (ClinVar)

264 variantes patogênicas registradas no ClinVar.

🧬 GFAP: NM_002055.5(GFAP):c.1250A>G (p.Asp417Gly) ()
🧬 GFAP: NM_002055.5(GFAP):c.71dup (p.Leu25fs) ()
🧬 GFAP: NM_002055.5(GFAP):c.192G>C (p.Glu64Asp) ()
🧬 GFAP: NM_002055.5(GFAP):c.1072G>A (p.Ala358Thr) ()
🧬 GFAP: NM_002055.5(GFAP):c.1120G>C (p.Glu374Gln) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 176 variantes classificadas pelo ClinVar.

70
97
9
Patogênica (39.8%)
VUS (55.1%)
Benigna (5.1%)
VARIANTES MAIS SIGNIFICATIVAS
GFAP: NM_002055.5(GFAP):c.1072G>A (p.Ala358Thr) [Likely pathogenic]
GFAP: NM_002055.5(GFAP):c.241G>C (p.Ala81Pro) [Likely pathogenic]
GFAP: NM_002055.5(GFAP):c.808C>G (p.Arg270Gly) [Likely pathogenic]
GFAP: NM_002055.5(GFAP):c.650G>A (p.Arg217Gln) [Conflicting classifications of pathogenicity]
GFAP: NM_002055.5(GFAP):c.370C>T (p.Arg124Trp) [Conflicting classifications of pathogenicity]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença de Alexander, tipo I

🗺️

Selecione um estado ou use sua localização para ver resultados.

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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Publicações mais relevantes

Timeline de publicações
292 papers (10 anos)
#1

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 Oncology2026 Mar 09

Gedatolisib potently targets all four class I PI3K isoforms and mTORC1 and mTORC2 to comprehensively block the PI3K/AKT/mTOR pathway and has shown compelling activity in early clinical trials with palbociclib and fulvestrant. This phase III randomized trial (VIKTORIA-1; ClinicalTrials.gov identifier: NCT05501886) evaluated the efficacy of gedatolisib-based therapy, comparing gedatolisib, palbociclib, and fulvestrant (gedatolisib triplet) and gedatolisib plus fulvestrant (gedatolisib doublet) with fulvestrant monotherapy in patients with hormone receptor-positive, human epidermal growth factor receptor 2-negative (HER2-), PIK3CA wild-type (WT) advanced breast cancer. Eligible patients had disease progression during or after CDK4/6 inhibitor and aromatase inhibitor treatment. Comparison of progression-free survival as assessed by blinded independent central review for gedatolisib triplet versus fulvestrant and gedatolisib doublet versus fulvestrant was the primary objective. A total of 392 patients were randomly assigned 1:1:1. The median study follow-up was 10.1 months. The median progression-free survival was 9.3 months in the gedatolisib-triplet group, 2.0 months in the fulvestrant group (hazard ratio [HR] for progression or death, 0.24 [95% CI, 0.17 to 0.35]; P < .001), and 7.4 months in the gedatolisib-doublet group (HR, 0.33 [95% CI, 0.24 to 0.48]; P < .001 v fulvestrant). Grade ≥3 treatment-related adverse events (TRAEs) reported in the gedatolisib-triplet and gedatolisib-doublet groups, respectively, included neutropenia (62.3%, 0.8%), stomatitis (19.2%, 12.3%), rash (4.6%, 5.4%), hyperglycemia (2.3%, 2.3%), and diarrhea (1.5%, 0.8%). Study treatment discontinuation because of TRAEs was reported in 2.3% (triplet) and 3.1% (doublet) of patients. The addition of gedatolisib to fulvestrant, with or without palbociclib, significantly reduced the risk of disease progression or death in patients with hormone receptor-positive/HER2-, PIK3CA WT advanced breast cancer.

#2

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 Haemapheresis2026 Feb 20

Citrate-based anticoagulants and blood product replacement during centrifugal plasma exchange (PLEX) can cause hypocalcemia, especially in liver disease where citrate clearance is impaired. This study aimed to determine the incidence and predictors of hypocalcemia in patients undergoing low-volume PLEX (PLEX-LV) for liver failure syndromes. Consecutive adult patients who underwent centrifugal PLEX-LV (50 % of calculated plasma volume) between 2020 and 2024 were included. Acid citrate dextrose-A was used as the anticoagulant, and all patients received 20 mL of 10 % calcium gluconate intravenously during each session. Serum corrected calcium levels were measured before and 12 h after each session. Hypocalcemia was defined as corrected calcium < 8.4 mg/dl. A total of 276 patients (75.4 % male; mean age 38.5 years) underwent 924 PLEX-LV sessions for acute-on-chronic liver failure (56.5 %), acute liver injury (13.8 %), acute liver failure (20.3 %), and cholestasis (9.4 %). Alcohol-related liver disease predominated in ACLF (78.2 %), while rodenticide hepatotoxicity was common in ALI/ALF (59.6 %). Post-PLEX hypocalcemia occurred in 39 patients (14.1 %) across 54 sessions (5.8 %), including 29 patients with ALI/ALF (74.4 %), of whom 27/29 had rodenticide toxicity (p < 0.001). Two patients (0.7 %) developed symptomatic hypocalcemia and recovered with calcium supplementation. On univariate analysis, young age (p = 0.01), female gender (p = 0.02), and syndrome type (ACLF v/s ALI/ALF p < 0.001) were significant. On multivariable analysis, the presence of ALI/ALF remained the only independent predictor of hypocalcemia (OR 6.85, p < 0.001). Symptomatic hypocalcemia is uncommon in liver disease patients undergoing low-volume centrifugal plasma exchange with protocol calcium supplementation. Serial calcium monitoring is advisable in these patients.

#3

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

medRxiv : the preprint server for health sciences2026 Jan 18

Niemann-Pick disease, type C1 (NPC1), is a rare, fatal, neurodegenerative lysosomal disorder caused by pathological variants in NPC1. Defects in lysosomal cholesterol transport result in the accumulation of unesterified cholesterol within the endo-lysosomal compartments. Delayed diagnosis, limited treatment options, and phenotypic heterogeneity characterized by a broad range of signs/symptoms underscore the urgent need for effective biomarkers to facilitate diagnosis, monitor disease progression and assess therapeutic response. The goal of this study was to identify serum protein biomarkers for NPC1. Proximal Extension Assays (PEA) were used to determine relative protein expression levels from 68 serum samples from NPC1 individuals and 20 age-appropriate control serum samples. Statistical models identified NPC1 disease-specific effects after adjusting for covariates. Selected proteins were orthogonally validated by ELISA and correlated with assessments of both disease severity (Age of Neurological Onset (ANO) and Annual Severity Increment Score (ASIS)) and disease burden (NPC Neurological Severity Score (NSS). Quantifiable data was obtained on 2888 proteins, revealing 186 increased (adjusted log2FC ≥ 1) and 286 decreased (adjusted log2FC ≤ -1) proteins with adj. p-value < 0.1 when comparing NPC1 individuals not being treated with miglustat versus control serum samples. Using orthogonal assays, we confirmed significant elevations for seven proteins: TREM2, AgRP, CCL18, Cathepsin L, GPNMB, NPY, and HSD17B14, and a significant decrease of BDNF. We further identified 100 proteins whose abundance levels were significantly altered towards normal by miglustat treatment. We found the 17-domain NPC NSS to be correlated with protein levels in the PEA data. Orthogonally validated data correlated with the age of neurological onset. We also identified 25 differentially abundant serum proteins in NPC1 baseline samples which are predominantly expressed in brain regions. The statistical analysis pipeline developed in this study is flexible and scalable and supports application to high-dimensional proteomic datasets. This study identified and validated serum proteins with altered expression in individuals with NPC1, responded to miglustat therapy, and correlated with disease severity or burden. These proteins may have clinical utility as biomarkers and provide insights into cellular mechanisms contributing to NPC1 disease pathology. NCT00344331 (Registration on 2006-06-23).

#4

Epidemiology of adult T-cell leukemia/lymphoma (ATL) in people living with HTLV-1: A 30-year study in Peru.

PLoS neglected tropical diseases2026 Feb

Adult T-cell Leukemia/Lymphoma (ATL) is caused by human T-leukemia virus type 1 (HTLV-1). Over 10 million people are infected worldwide, but only up to 5% develop ATL. HTLV-1 infection is endemic in Peru; however, there are currently no reports focusing on the epidemiological characteristics of Peruvian individuals with ATL. Data from the HTLV-1 Unit registry covering the period from June 1992 to November 2023 were retrospectively analyzed. Clinical report forms and histopathology records from national referral cancer centers were reviewed. Descriptive statistics were used to characterize patients, and Kaplan-Meier methods assessed survival by ATL subtype. A total of 116 confirmed ATL cases were identified. There was a slight female predominance, with 52.6% women (n = 61) and 47.4% men (n = 55). The median age at diagnosis was 54 years (IQR 42-61), with 42.2% of patients diagnosed before age 50. Only 13.8% of patients (n = 16) were diagnosed with HTLV-1 infection before ATL development, and only 8 of those were diagnosed through routine screening. The most common ATL subtype was lymphomatous (65.5%), followed by smoldering/chronic (24.1%), and acute ATL (9.5%). With a median follow-up of 15.9 months, median survival times were 6.5, 12.5, and 89.6 months for acute, lymphomatous, and smoldering/chronic subtypes, respectively. One-year survival rates ranged from 37.5% in acute ATL to 84.6% in smoldering/chronic ATL. Comorbid HTLV-1-associated diseases included infective dermatitis (15.5%), HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) (8.6%), and Strongyloides stercoralis hyperinfection (6.9%). This is the first study to describe ATL epidemiology in Peru from an infectious disease perspective. Most patients were unaware of their HTLV-1 status before developing ATL, highlighting missed opportunities for earlier detection. Routine HTLV-1 testing should be considered in the evaluation of T-cell malignancies in endemic countries. In addition, screening high-risk populations could support earlier diagnosis and reduce transmission. Improving access to diagnostic tools, along with stronger collaboration between infectious diseases and oncology services could improve patient outcomes in endemic regions.

#5

Daratumumab in systemic lupus erythematosus: a single-arm phase 2 trial.

Nature communications2026 Feb 03

Antibody-secreting cells (ASCs) play a central role in the pathophysiology of systemic lupus erythematosus (SLE). This single-arm, open-label, phase 2 clinical trial aims to evaluate the safety and efficacy of the ASC-depleting anti-CD38 monoclonal antibody daratumumab in patients with SLE (NCT04810754). The primary endpoint is the reduction in serum anti-double-stranded DNA (anti-dsDNA) antibody levels at week 12. Key secondary end points include safety, clinical efficacy, and immunologic changes. Ten female patients with active disease and inadequate responses to at least two immunosuppressive drugs have received eight subcutaneous injections of 1800 mg daratumumab weekly, with dexamethasone as premedication (20 mg for first two injections, then 10 mg). By week 12, anti-dsDNA antibody levels have been reduced by a median of 109.6 IU/ml (95% CI 38.1 - 274.5). The treatment resulted in rapid and sustained clinical improvements across all patients and organ domains, reflected by a 100% SRI-4 (Systemic Lupus Erythematosus Responder Index-4) response rate at week 12. Hypogammaglobulinemia occurred in 5/10 patients, requiring immunoglobulin substitution. Daratumumab treatment has depleted circulating ASCs, reduced type I interferon activity, and profoundly modulated the T-cell responses. These findings highlight the pivotal role of ASCs in SLE pathogenesis and support daratumumab as therapeutic option for SLE.

Publicações recentes

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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
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Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
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Clinical journal of the American Society of Nephrology : CJASN
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The Journal of clinical investigation
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Coxiella burnetii infects osteoclasts and alters their differentiation and function in a type IV secretion system-dependent manner.

Frontiers in immunology
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Molecular cancer
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Nature communications
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Advances in therapy
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Nucleic acids research
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Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1.

Molecular genetics and metabolism
2026

End-of-life care utilization of older adults with heart failure and/or COPD: the role of family availability.

Heart &amp; lung : the journal of critical care
2026

EBM BLS: Semaglutide Reduces Kidney Disease Progression in Patients with Type 2 Diabetes and Chronic Kidney Disease.

Journal of general internal medicine
2026

Lung basement membranes are compositionally and structurally altered following resolution of influenza infection.

Mucosal immunology
2025

Comparative in vitro susceptibility of clinical Leishmania isolates to miltefosine and oleylphosphocholine.

Frontiers in pharmacology
2026

Advancing arabinose-based bioproduction in Yarrowia lipolytica by integrating metabolic engineering and adaptive laboratory evolution.

Metabolic engineering
2026

Coramitug, a Humanized Monoclonal Antibody for the Treatment of Transthyretin Amyloid Cardiomyopathy: A Phase 2, Randomized, Multicenter, Double-Blind, Placebo-Controlled Trial.

Circulation
2026

Efficacy of Acoramidis in Wild-Type and Variant Transthyretin Amyloid Cardiomyopathy: Results From ATTRibute-CM and Its Open-Label Extension.

JAMA cardiology
2025

Baseline Kidney Function, Albuminuria, and Urine Albumin-Creatinine Ratio Reduction with Finerenone, Empagliflozin, or Both: Post Hoc Analyses of CONFIDENCE Trial.

Journal of the American Society of Nephrology : JASN
2025

Short- and mid-term effects of empagliflozin on sodium balance and fluid regulation in chronic heart failure.

European journal of heart failure
2025

Regional brain morphology and current antidepressant use: findings from 32 international cohorts from the ENIGMA major depressive disorder working group.

Molecular psychiatry
2025

Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study.

European journal of neurology
2025

Chronic optogenetic activation of hippocampal CA1 neurons triggers Alzheimer's disease-like proteomic remodeling.

iScience
2025

R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy.

Journal of cachexia, sarcopenia and muscle
2025

First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia.

Gut
2025

Dietary ω-3 polyunsaturated fatty acids (PUFAs) reduce cholesterol-driven non-small cell lung cancer (NSCLC) progression in mouse models of disease.

Communications medicine
2026

Fenestrating Adenocarcinoma: A Novel Salivary Gland Cancer With EWSR1::BEND2 Fusion and Predilection for the Pharynx.

The American journal of surgical pathology
2026

Identification of a novel PDE4 inhibitor inspired by leoligin-derived lignans.

European journal of medicinal chemistry
2025

A phase Ib/II trial of neoadjuvant neratinib added to standard therapy in patients with HER2-positive or HR-positive/HER2-negative inflammatory breast cancer (including stage III and IV disease).

Therapeutic advances in medical oncology
2025

The microbial metabolite desaminotyrosine protects against graft-versus-host disease via mTORC1 and STING-dependent intestinal regeneration.

Nature communications
2026

Entheseal tissue signature in response to IL-17A inhibition in psoriatic arthritis: results from the EBIO entheseal biopsy study.

Annals of the rheumatic diseases
2026

Weak influence of light and time of day on transcriptional response to SAV3 infection in Atlantic salmon (Salmo salar) smolts.

Fish &amp; shellfish immunology
2026

Soluble BDCA-2 as a potential biomarker for rheumatoid arthritis and its role in enhancing IFN-α production through nucleic acid binding.

Rheumatology (Oxford, England)
2025

Knowledge, attitude, and quality of life among newly diagnosed type 2 diabetic patients attending diabetic clinics at Bugando Medical Centre, Mwanza, Tanzania.

Frontiers in clinical diabetes and healthcare
2026

Pancreatic transdifferentiation of NOD mouse livers prevented development of hyperglycemia.

Molecular therapy : the journal of the American Society of Gene Therapy
2025

Elevated Interleukin-8 in Spinocerebellar Ataxia Type 2: A Distinct Peripheral Immune Signature Unrelated To Disease Severity.

Cerebellum (London, England)
2026

Basophils in Skin-Mediated Sensitization Drive Subsequent Lung Inflammation in Airway-Challenged Mice.

Allergy
2025

Novel COL4A1 missense variant in a case of juvenile stroke.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2025

Which Psycho-Oncological Interventions Are Applied in an Acute Care Hospital in Germany?-An Exploratory Retrospective Cross-Sectional Single Center Study.

Psycho-oncology
2025

BEAM/ATG or cyclophosphamide/ATG as conditioning regimen in autologous haemopoietic stem cell transplantation for multiple sclerosis: a retrospective analysis of the EBMT autoimmune diseases working party.

Bone marrow transplantation
2025

JUNB and JUND in Urological Cancers: A Literature Review.

Current issues in molecular biology
2025

Association of BMI and Cognitive Performance in the Diabetes Prevention Program Outcomes Study.

Obesity (Silver Spring, Md.)
2025

Differential TGF-β2 expression in the anterior and posterior eye segments in mice with early streptozotocin-induced diabetes.

Experimental eye research
2025

CD163/CD63+ Monocyte-Derived DC Profiled in Tissue by Multi-Antigen Analysis (MAA) Discriminate Chronic Eczema and Psoriasis.

International journal of molecular sciences
2025

Individual lipid alterations at the origin of neuronal Ceramide Synthase defects.

PLoS genetics
2026

Obesity Impairs Skin Barrier Function and Facilitates Allergic Sensitization in Mice.

Allergy
2025

Impact of Baseline GLP-1 Receptor Agonist Use on Albuminuria Reduction and Safety With Simultaneous Initiation of Finerenone and Empagliflozin in Type 2 Diabetes and Chronic Kidney Disease (CONFIDENCE Trial).

Diabetes care
2025

Quantification of Exercise-Induced Sarcomeric Damage in R349P Desmin Knock-In Mice: A New Approach in Myofibrillar Myopathy Research.

Neuropathology and applied neurobiology
2025

Molecular Characterization of the GALC Mutation Thr112Ala Causing Krabbe Disease.

International journal of molecular sciences
2025

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Journal of neuromuscular diseases
2025

Inferior Vena Cava Ultrasound to Guide Decongestion in Acute Decompensated Heart Failure: A Randomized Controlled Trial.

JACC. Heart failure
2025

Indications for haematopoietic cell transplantation and CAR-T for haematological diseases, solid tumours and immune disorders: 2025 EBMT practice recommendations.

Bone marrow transplantation
2025

Impaired Pulmonary Vascular Reserve in Adults with Repaired Coarctation of Aorta: Prevalence, Correlates, and Association with Disease Severity.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2026

Breaking primary checkpoint inhibitor resistance with intermittent alkylating chemotherapy in patients with metastatic melanoma: results of a multicentre phase II trial.

The British journal of dermatology
2025

Evaluating diabetes self-management education and support services delivered alone and in combination with produce packages at a Texas Food Bank.

Journal of prevention &amp; intervention in the community
2025

Impact of myotomy length on per-oral endoscopic myotomy (POEM) outcomes for achalasia: a meta-analysis of randomized trials.

Surgical endoscopy
2025

Context dependent role of miR-486 promoting neuroregeneration of primary sensory neurons downstream of interleukin-6 signal transducer.

Molecular therapy. Nucleic acids
2025

Micrometastasis and Isolated Tumor Cells in Oral Squamous Cell Carcinoma: Refining Nodal Staging with Emerging Technologies.

Head and neck pathology
2025

Simultaneous initiation of finerenone and empagliflozin across the spectrum of kidney risk in the CONFIDENCE trial.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2025

Extracorporeal photopheresis reduces the T cell stimulatory capacity of human primary blood conventional dendritic cells type 1.

Frontiers in immunology
2025

Association between polygenic risk and survival in breast cancer patients.

BMC cancer
2025

Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.

Cell reports. Medicine
2025

Early treatment with vildagliptin and linagliptin reduces social fear and prevents the onset of comorbid depression in a mouse model of social anxiety disorder.

Neuropharmacology
2025

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis.

Journal of clinical immunology
2025

Roles of the lipopolysaccharide biosynthesis-related gene HP0858 in the fitness of Helicobacter pylori and its virulence in Galleria mellonella.

Virulence
2025

Interstitial Lung Disease Associated with Autoimmune Rheumatic Diseases: An Experience from Türkiye.

European journal of rheumatology
2025

Seizure 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 Neuroscience
2025

Racial Differences in Length of Stay After Atrial Fibrillation Ablation.

Pacing and clinical electrophysiology : PACE
2026

Brain Endothelial Soluble ST2 Production and Cerebral Edema in a Rat Model of Ischemic Stroke.

Annals of neurology
2025

Saccharomyces 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 biophysics
2025

Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1.

Genetics in medicine open
2025

Best 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)
2025

A scoping review protocol: Neuropsychological development in pediatric ophthalmology patients with social determinants of health analysis.

PloS one
2025

Malignant triton tumor of the common bile duct.

Clinical journal of gastroenterology
2025

Prognostic 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)
2025

Epigenetic liquid biopsies reveal endothelial turnover and erythropoiesis in asymptomatic COVID-19.

Life science alliance
2025

Changes in prescribing patterns and access to immune checkpoint inhibitors in german lung cancer patients - a claims data analysis.

BMC public health
2025

Mutations in GFAP Alter Early Lineage Commitment of Organoids.

Glia
2025

Functional Autoantibodies Targeting G-Protein-Coupled Receptors and Their Clinical Phenotype in Patients with Long-COVID.

International journal of molecular sciences
2025

Prevalence and survival outcomes of adult T-cell leukemia/lymphoma in Latin America: A multicenter cohort study and recommendations to improve diagnosis and outcomes.

Cancer epidemiology
2025

Co-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 communications
2026

Differential molecular signatures in response to CD19-CAR T cell therapy compared with conventional pharmacotherapy in systemic lupus erythematosus.

Annals of the rheumatic diseases
2025

CYP1B1 knockout enhanced IFN-γ production is required but not sufficient for protection of cigarette smoke-exposed mice against lethal influenza virus infection.

Frontiers in immunology
2025

Genotype and transcript processing of the tumour necrosis factor receptor TNFRSF1A in epithelial cells: implications for survival in cystic fibrosis.

EBioMedicine
2025

Longitudinal 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)
2025

Impaired Autophagic Flux in Skeletal Muscle of Plectin-Related Epidermolysis Bullosa Simplex With Muscular Dystrophy.

Journal of cachexia, sarcopenia and muscle
2025

Comparative Prognosis by Stress ECG and Stress Imaging: Results From the ISCHEMIA Trial.

JACC. Cardiovascular imaging
2025

Gene therapy enhances deoxyribonuclease I treatment in antimyeloperoxidase glomerulonephritis.

JCI insight
2025

Biofabrication of a Filtration Barrier by Integrating Electrospun Membranes and Flow in a Glomerular Co-Culture.

Advanced healthcare materials
2025

Loss of NR2F6 Protects from Salmonella Typhimurium Infection.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Humoral vaccine responses following Chimeric Antigen Receptor T-cell therapy for hematological malignancies.

Blood cancer journal
2025

Mast cells infiltrates are common in eosinophilic esophagitis and still elevated in histological remission: A digital evaluation in children.

Journal of pediatric gastroenterology and nutrition
2025

Relationship 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 &amp; medicine
2025

Ogerin Inhibits Development of Post-Operative Abdominal Adhesions in a Murine Model.

Journal of pediatric surgery
2025

US Public Health Gains from Improved Treatment of Hypercholesterolemia: A Simulation Study of NHANES Adults Treated to Guideline-Directed Therapy.

Journal of general internal medicine
2025

Small U-Net for Fast and Reliable Segmentation in Imaging Flow Cytometry.

Cytometry. Part A : the journal of the International Society for Analytical Cytology
2026

Infrapopliteal bypass surgery in the endovascular era.

VASA. Zeitschrift fur Gefasskrankheiten
2025

Letermovir prophylaxis for cytomegalovirus infection in hematopoietic transplantation with post-transplant cyclophosphamide.

Medicina
2025

Beyond 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 medicine
2025

The SGLT2 Inhibitor Empagliflozin Mitigates the Harmful Effects of Methylglyoxal Exposure on Ovalbumin-Induced Mouse Airway Inflammation.

International journal of molecular sciences
2025

Crosstalk between oxidative stress, mitochondrial dysfunction, chromosome instability, and the activation of the cGAS-STING/IFN pathway in systemic sclerosis.

Ageing research reviews
2025

Consensus Guideline for the Management of Patients with Appendiceal Tumors, Part 2: Appendiceal Tumors with Peritoneal Involvement.

Annals of surgical oncology
2025

The Epidemiology of Cervical Cancer in Germany: A Registry-Based Analysis of Incidence, Survival, and Tumor Characteristics (2003–2021).

Deutsches Arzteblatt international
2026

Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale.

Journal of child neurology
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What 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 research
2025

Ultra-fast MRI for dementia diagnosis and treatment eligibility: A prospective study.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2025

Clinical 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 publica
2025

Prognostic Significance of Macrophage Phenotypes in Peri-Tumoral Normal Tissue of Early-Stage Breast Cancer.

Cells
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Sitagliptin 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 Neuropsychopharmacology
2025

COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.

Kidney international reports
2025

Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3.

Kidney international
2025

High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins.

Angiogenesis
2025

Finerenone with Empagliflozin in Chronic Kidney Disease and Type 2 Diabetes.

The New England journal of medicine
2025

Single cell profiling of human airway identifies tuft-ionocyte progenitor cells displaying cytokine-dependent differentiation bias in vitro.

Nature communications
2025

Successful Anesthetic Management for Laparoscopic Gynecological Surgery in Adult-Onset Alexander's Disease: A Case Report.

Cureus
2025

The emerging role of GlycoRNAs in immune regulation and recognition.

Immunology letters
2025

The 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 pediatrics
2025

Hypertension Canada guideline for the diagnosis and treatment of hypertension in adults in primary care.

Canadian pharmacists journal : CPJ = Revue des pharmaciens du Canada : RPC
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Efficacy and safety of rigosertib in patients with recessive dystrophic epidermolysis bullosa-associated advanced/metastatic cutaneous squamous cell carcinoma.

The British journal of dermatology
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Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.

Nature communications
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Impact of surgical case load on recurrence rates in pilonidal sinus disease: a cross-study data synthesis.

International journal of colorectal disease
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A suite of enhancer AAVs and transgenic mouse lines for genetic access to cortical cell types.

Cell
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Extracorporeal Shock Wave Therapy for Chronic Adhesive Capsulitis in Type 2 Diabetics: A Systematic Review With Meta-Analysis.

Physical therapy
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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Nature genetics
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Targeting interferon responses in juvenile dermatomyositis: Siglec-1 as an in vitro biomarker for JAK inhibitor efficacy.

Rheumatology (Oxford, England)
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HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

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Changes 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 therapy
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Glands of Moll: history, current knowledge and their role in ocular surface homeostasis and disease.

Progress in retinal and eye research
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Multi-Epitope DC Vaccines with Melanoma Antigens for Immunotherapy of Melanoma.

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Inflammatory Skin Diseases: The Importance of Immunological Signatures.

Deutsches Arzteblatt international
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Bilateral 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 Surgery
2025

Case Finding for Celiac Disease With a Point-of-Care Test.

Pediatrics
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Bridging acute and chronic stress effects on inflammation: protocol for a mixed-methods intensive longitudinal study.

BMC psychology
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CD55 upregulation in T cells of COVID-19 patients suppresses type-I interferon responses.

Communications biology
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Cell type mapping of mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy using single-nucleus multiomics.

Epilepsia
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Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.

bioRxiv : the preprint server for biology
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Urinary sodium wasting and disrupted collecting duct function in mice with distal renal tubular acidosis mutations.

Disease models &amp; mechanisms
Ver todos os 393 no EuropePMC

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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. 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
  2. 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
  3. Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.
    medRxiv : the preprint server for health sciences· 2026· PMID 41742944mais citado
  4. Epidemiology of adult T-cell leukemia/lymphoma (ATL) in people living with HTLV-1: A 30-year study in Peru.
    PLoS neglected tropical diseases· 2026· PMID 41729993mais citado
  5. Daratumumab in systemic lupus erythematosus: a single-arm phase 2 trial.
    Nature communications· 2026· PMID 41629292mais citado
  6. 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.
    Eur Urol· 2026· PMID 41956860recente
  7. The dominance of large-scale phase dynamics in human cortex, from delta to gamma.
    Elife· 2026· PMID 41954599recente
  8. Four new species of Dasymallomyia Brunetti (Diptera, Limoniidae, Chioneinae) from China.
    Zookeys· 2026· PMID 41940413recente
  9. Gross anatomy of the skeleton of neonates of the Orinoco Matamata turtle (Chelus orinocensis).
    PLoS One· 2026· PMID 41920920recente
  10. Defining the Prominent Ear: Anthropometric Profile of Prominent and Normal Ears in the Arabian Peninsula.
    J Craniofac Surg· 2026· PMID 41911583recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:363717(Orphanet)
  2. MONDO:0018209(MONDO)
  3. GARD:17572(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Doença de Alexander, tipo I
Compêndio · Raras BR

Doença de Alexander, tipo I

ORPHA:363717 · MONDO:0018209
Prevalência
Unknown
Herança
Not applicable
CID-10
G93.8 · Outros transtornos especificados do encéfalo
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5679915
EuropePMC
Wikidata
Papers 10a
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