Leucodistrofia hereditária rara caracterizada por demência pré-senil progressiva associada a fraturas ósseas recorrentes devido a lesões ósseas policísticas das extremidades inferiores e superiores.
Introdução
O que você precisa saber de cara
Leucodistrofia hereditária rara caracterizada por demência pré-senil progressiva associada a fraturas ósseas recorrentes devido a lesões ósseas policísticas das extremidades inferiores e superiores.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 29 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 57 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding (PubMed:10799849). Acts as a receptor for amyloid-beta protein 42, a cleavage product of the amyloid-beta precursor protein APP, and mediates its uptake and degradation by microglia (PubMed:27477018, PubMed:29518356). Binding to amyloid-beta 42 mediates microglial activation, proliferation, migration, apoptosis and expression of pro-inflammatory cytokines, such as IL6R and CCL3, a
Cell membraneSecreted
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
An autosomal recessive disease characterized by presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years.
Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors (PubMed:10604985, PubMed:9490415, PubMed:9655483). TYROBP is tyrosine-phosphorylated in the ITAM domain following ligand binding by the associated receptors which leads to activation of additional tyrosine kinases and subsequent cell activation (PubMed:9490415). Also has an inhibitory role in
Cell membrane
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
A recessively inherited disease characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usually leads to death in the fifth decade of life.
Variantes genéticas (ClinVar)
63 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 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 Nasu-Hakola
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.
Publicações mais relevantes
A Novel Rare Homozygous R47C Variant in TREM2 with Frontal Variant Alzheimer's Disease.
Triggering Receptor expressed on Myeloid cells 2 (TREM2) mutations can cause Nasu-Hakola disease, a rare form of dementia, and are also linked to an increased risk of Alzheimer's disease (AD) and frontotemporal dementia (FTD). The TREM2 receptor plays a role in microglial cell function, including response to injury and amyloid beta pathology in the brain. Variants in TREM2, particularly in exon 2, can disrupt its function, contributing to AD pathology, such as accumulation of amyloid beta plaques and tau tangles. In this study, we conducted screening of exon 2 in TREM2 to identify mutations in a carefully characterized cohort comprising individuals with AD, FTD, and mild cognitive impairment (MCI) from South India. We report the identification of a homozygous p.R47C variant (rs753325601) in a case diagnosed with frontal variant AD. Our finding reinforces the correlation between TREM2 genetic variations and the manifestation of atypical AD phenotypes, highlighting the significance of TREM2 mediated pathogenic mechanisms in modulating disease presentation.
System biology and network-based approach to identify the therapeutic signatures and potential inhibitors against polycystic lipomembranous osteodysplasia with Sclerosing Leukoencephalopathy.
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL), often recognized as Nasu-Hakola disease, is an uncommon autosomal recessive systemic condition described by numerous bone lesions that resemble cysts and progressive early-onset dementia. One novel way to find possible drug targets is to use Network Analyst tools for network-based gene expression profiling. Identifying the target hub genes, essential for the initiation and progression of PLOSL, is validated by the significance level (p-score) attained using Cytoscape in the survival analysis of the major central genes. The X2K online tool also examined the regulatory kinases that formed the interaction between protein molecule networks. Out of the 53 genes obtained to be differentially expressed, PPARG and AIF1 had the greatest degree score, followed by C1QA with 5 degrees and SIGLEC1 and MSR1 with 4 degrees. Furthermore, Molecular docking of target PPARG gene with AMG-131 and Elafibranor drugs, having the chemical formulas 2-[2,6-dimethyl-4-[(E)-3-(4-methylsulfanylphenyl)-3-oxoprop-1-enyl]phenoxy], and 3,5-dichloro-4-quinolin-3-yloxyphenyl) benzenesulfonamide, along control (Rosiglitazone (S) shows binding affinities of -7.2 kcal/mol, -7.4 kcal/mol, and -7.6 kcal/mol respectively. The enzyme remained extremely stable in the complex throughout 200 ns, with a mean Root Mean Square Deviation (RMSD) of 2.95 Å for the AMG-131 complex system and 2.93 Å against the Elafibranor complex system. Root Mean Square Fluctuation (RMSF) anticipated steady behavior with average RMSD for the active site residues in the docked system. Arg76 and Leu28leu Leu118 were shown to be essential enzyme residues for binding, anchoring, and bridging strong hydrogen and hydrophobic interactions between the enzyme and the inhibitor, according to the Radial Distribution Function (RDF). These results broadened our knowledge of putative biomarkers for PLOSL diseases, and an experimental strategy will improve our results even more in the future.
TREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting.
TREM2 (triggering receptor expressed on myeloid cells 2) is a membrane-bound receptor primarily expressed on microglia in the central nervous system (CNS). TREM2 plays a crucial role in regulating immune responses, phagocytosis, lipid metabolism, and inflammation. Mutations in the TREM2 gene have been linked to various neurodegenerative diseases, including Alzheimer's disease (AD), frontotemporal dementia (FTD), Parkinson's disease (PD), and Nasu-Hakola disease (NHD). These mutations are suggested to impair microglial activation and reduce the ability to clear amyloid aggregates, leading to exacerbated neuroinflammatory responses and accelerating disease progression. This review provides an overview of TREM2 structure, functions, and known pathogenic variants-including Arg47His, Arg62His, His157Tyr, Tyr38Cys, and Thr66Met. Furthermore, the molecular and cellular consequences of TREM2 mutations are introduced, such as impaired ligand binding, altered protein folding and trafficking, enhanced TREM2 shedding, and dysregulated inflammatory signaling. We also highlight recent advances in therapeutic strategies aimed at modulating TREM2 signaling. These include monoclonal antibodies (e.g., AL002, CGX101), small molecule agonists, and gene/cell-based therapies that seek to restore microglial homeostasis, enhance phagocytosis, and reduce neuroinflammation. While these approaches show promise in in vivo/in vitro studies, their clinical translation may be challenged by disease heterogeneity and mutation-specific responses. Additionally, determining the appropriate timing and precise dosing will be essential.
Neuroglia in leukodystrophies.
Leukodystrophies are a heterogeneous group of rare genetic neurologic disorders characterized by white matter degeneration resulting from mutations affecting glial cells. This review focuses on the primary subtypes-astroglial, oligodendroglial, and microglial leukodystrophies-offering a detailed description of their neuropathologic features and clinical manifestations. It delves into key aspects of the pathogenesis, emphasizing the distinct cellular mechanisms that drive white matter damage. Advances in disease modeling, including the development of animal models with pathologic gene expressions and patient-derived iPS-cell models, have significantly enhanced our understanding of these rare disorders. Insights into the roles of different glial cell types highlight the complexity of leukodystrophies and provide a foundation for the development of targeted therapeutic strategies.
Generation of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene.
NHD/PLOSL is an orphan disease characterized by progressive presenile dementia associated with recurrent fractures due to polycystic bone lesions. In this study, we generated the human induced pluripotent stem cell (hiPSC) line BIHi292-A from a 30-year-old women diagnosed with NHD/PLOSL, carrying two compound heterozygous frameshift mutations [c.313del (p.Ala105fs) and c.199del (p.His67fs)] in the TREM2 (triggering receptor expressed on myeloid cells 2) gene. BIHi292-A hiPSCs are karyotypically normal, express typical markers for the undifferentiated state and have pluripotent differentiation potential. BIHi292-A cells will provide a valuable tool for investigating pathogenic mechanisms of NHD/PLOSL and TREM2-related research questions.
Publicações recentes
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy.
A Novel Rare Homozygous R47C Variant in TREM2 with Frontal Variant Alzheimer's Disease.
System biology and network-based approach to identify the therapeutic signatures and potential inhibitors against polycystic lipomembranous osteodysplasia with Sclerosing Leukoencephalopathy.
Nasu-Hakola Disease Presenting as Rapidly Progressive Dementia With Seizures: A TREM2 Mutation Case Without Skeletal Involvement.
Roles of TREM2 in Alzheimer's disease.
📚 EuropePMC83 artigos no totalmostrando 101
A Novel Rare Homozygous R47C Variant in TREM2 with Frontal Variant Alzheimer's Disease.
Neurology IndiaSystem biology and network-based approach to identify the therapeutic signatures and potential inhibitors against polycystic lipomembranous osteodysplasia with Sclerosing Leukoencephalopathy.
PloS oneNasu-Hakola Disease Presenting as Rapidly Progressive Dementia With Seizures: A TREM2 Mutation Case Without Skeletal Involvement.
CureusRoles of TREM2 in Alzheimer's disease.
Translational neurodegenerationNasu-Hakola Disease: Crippling the Brain and Bones!
Annals of Indian Academy of NeurologyPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: report of two cases.
Dementia & neuropsychologiaTREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting.
International journal of molecular sciencesBiophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.
Computational and structural biotechnology journalNeuroglial Pathophysiology of Leukodystrophies.
Advances in neurobiologyMonoallelic TYROBP deletion is a novel risk factor for Alzheimer's disease.
Molecular neurodegenerationNeuroglia in leukodystrophies.
Handbook of clinical neurologyTREM2 in Regulating Macrophage Inflammatory Responses and Disease Pathogenesis.
Critical reviews in immunologyGeneration of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene.
Stem cell researchExtracellular domain of TREM2 possess two distinct ligand recognition sites: Insights from machine-learning guided docking and all-atoms molecular dynamics simulations.
HeliyonEngineering of Human Blood-Induced Microglia-like Cells for Reverse-Translational Brain Research.
Journal of visualized experiments : JoVEMicroglia in Neurodegenerative Diseases.
Advances in neurobiologyBehavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.
Folia neuropathologicaDAP12 interacts with RER1 and is retained in the secretory pathway before assembly with TREM2.
Cellular and molecular life sciences : CMLSHomozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.
Molecular genetics & genomic medicineTREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
Brain : a journal of neurologyComputational saturation mutagenesis to explore the effect of pathogenic mutations on extra-cellular domains of TREM2 associated with Alzheimer's and Nasu-Hakola disease.
Journal of molecular modelingA mild type of Nasu-Hakola disease - a case of a woman with presenile dementia and cystic bone lesions.
Archives of medical science : AMSMicroglia and Brain Disorders: The Role of Vitamin D and Its Receptor.
International journal of molecular sciencesDefects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
Acta neuropathologicaA polarizing answer - microglia in Nasu-Hakola disease.
Nature immunologyNasu-Hakola Disease With Stroke-like Attack: A Case Report.
Alzheimer disease and associated disordersHuman early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated microglia.
Nature immunologyLipomembranous fat necrosis: A distinctive and unique morphology (Review).
Experimental and therapeutic medicineSoluble triggering receptor expressed on myeloid cells 2 (sTREM2) positively regulates lipopolysaccharide-induced expression of CXC chemokine ligand 10 and 11 in mouse macrophages.
Biochemical and biophysical research communicationsNasu-Hakola Disease - A Rare Type of Presenile Dementia.
Annals of Indian Academy of NeurologyTREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Journal of Alzheimer's disease : JADPrimary Microglia Dysfunction or Microgliopathy: A Cause of Dementias and Other Neurological or Psychiatric Disorders.
NeuroscienceThe Primary Microglial Leukodystrophies: A Review.
International journal of molecular sciencesDynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.
Scientific reportsAdvances in neuroRehabilitation of TREM2-related dementia: A case report on a novel multimodal approach using virtual reality.
MedicineDownregulation of m6A Methyltransferase in the Hippocampus of Tyrobp -/- Mice and Implications for Learning and Memory Deficits.
Frontiers in neuroscienceSoluble TREM2: Innocent bystander or active player in neurological diseases?
Neurobiology of diseaseA Shotgun Proteomic Platform for a Global Mapping of Lymphoblastoid Cells to Gain Insight into Nasu-Hakola Disease.
International journal of molecular sciencesModulation of microglial phenotypes by dexmedetomidine through TREM2 reduces neuroinflammation in heatstroke.
Scientific reportsTREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features.
European journal of neurologyNeuropathological Alzheimer's Disease Lesions in Nasu-Hakola Disease with TREM2 Mutation: Atypical Distribution of Neurofibrillary Changes.
Journal of Alzheimer's disease : JADReactive astrocytes express Aggregatin (FAM222A) in the brains of Alzheimer's disease and Nasu-Hakola disease.
Intractable & rare diseases researchTrem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice.
Molecular neurodegenerationNon-pathological roles of microglial TREM2/DAP12: TREM2/DAP12 regulates the physiological functions of microglia from development to aging.
Neurochemistry internationalDifferential regulation of TREM2 and CSF1R in CNS macrophages in an SIV/macaque model of HIV CNS disease.
Journal of neurovirologyMechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants.
Scientific reportsNeurodegenerative Disease-Associated Variants in TREM2 Destabilize the Apical Ligand-Binding Region of the Immunoglobulin Domain.
Frontiers in neurologyMicroglia express TMEM119 in the brains of Nasu-Hakola disease.
Intractable & rare diseases researchPhenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis.
Frontiers in immunologyMicroglia express GPNMB in the brains of Alzheimer's disease and Nasu-Hakola disease.
Intractable & rare diseases researchAssociation of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.
JAMA network openA novel homozygous mutation in TREM2 found in a Chinese early-onset dementia family with mild bone involvement.
Neurobiology of agingInflammatory expression profile in peripheral blood mononuclear cells from patients with Nasu-Hakola Disease.
CytokineMicroglia express gamma-interferon-inducible lysosomal thiol reductase in the brains of Alzheimer's disease and Nasu-Hakola disease.
Intractable & rare diseases researchBone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.
BoneEarly-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease.
Acta neurologica BelgicaHuman Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis.
Cell reportsMicroglial TREM2/DAP12 Signaling: A Double-Edged Sword in Neural Diseases.
Frontiers in cellular neuroscienceNasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family.
Noro psikiyatri arsiviThe Microglial Innate Immune Receptor TREM2 Is Required for Synapse Elimination and Normal Brain Connectivity.
ImmunitySmall nuclear RNA-mediated modulation of splicing reveals a therapeutic strategy for a TREM2 mutation and its post-transcriptional regulation.
Scientific reportsFunctional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.
Stem cell reportsFrontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.
Journal of Alzheimer's disease : JADAlzheimer's disease pathology in Nasu-Hakola disease brains.
Intractable & rare diseases researchNasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy): First report from India.
Neurology IndiaMicroglia and Aging: The Role of the TREM2-DAP12 and CX3CL1-CX3CR1 Axes.
International journal of molecular sciencesMicroglia Gone Rogue: Impacts on Psychiatric Disorders across the Lifespan.
Frontiers in molecular neuroscienceMicroglia express ABI3 in the brains of Alzheimer's disease and Nasu-Hakola disease.
Intractable & rare diseases researchEvidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation.
NeurologyTREM2/DAP12 Complex Regulates Inflammatory Responses in Microglia via the JNK Signaling Pathway.
Frontiers in aging neuroscienceThe Pathophysiological Role of Microglia in Dynamic Surveillance, Phagocytosis and Structural Remodeling of the Developing CNS.
Frontiers in molecular neuroscienceOH MYeloid! Immune cells wreaking havoc on brain homeostasis.
The EMBO journalA split-luciferase complementation, real-time reporting assay enables monitoring of the disease-associated transmembrane protein TREM2 in live cells.
The Journal of biological chemistryTREM2, Microglia, and Neurodegenerative Diseases.
Trends in molecular medicineExpression of GPR17, a regulator of oligodendrocyte differentiation and maturation, in Nasu-Hakola disease brains.
Intractable & rare diseases researchA novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature.
Neurobiology of agingThe Alzheimer's Disease-Associated R47H Variant of TREM2 Has an Altered Glycosylation Pattern and Protein Stability.
Frontiers in neuroscienceTREM2 Promotes Microglial Survival by Activating Wnt/β-Catenin Pathway.
The Journal of neuroscience : the official journal of the Society for NeuroscienceNeurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms.
eLifeExpression of gp91phox and p22phox, catalytic subunits of NADPH oxidase, on microglia in Nasu-Hakola disease brains.
Intractable & rare diseases researchTargeted sequencing approach to identify genetic mutations in Nasu-Hakola disease.
Intractable & rare diseases researchMicroglia and brain macrophages: An update.
Neuropathology : official journal of the Japanese Society of NeuropathologyAdult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: lesion staging and dynamic changes of axons and microglial subsets.
Brain pathology (Zurich, Switzerland)Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression.
Acta neuropathologica communications[Molecular Pathogenesis of Nasu-Hakola Disease Brain Lesions].
Brain and nerve = Shinkei kenkyu no shinpoFunctional involvement of γ-secretase in signaling of the triggering receptor expressed on myeloid cells-2 (TREM2).
Journal of neuroinflammationSoluble TREM-2 in cerebrospinal fluid from patients with multiple sclerosis treated with natalizumab or mitoxantrone.
Multiple sclerosis (Houndmills, Basingstoke, England)Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status.
Acta neuropathologicaThe Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases.
The Journal of biological chemistryA Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate.
Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of NeuropsychopharmacologyOverexpression of TREM2 enhances glioma cell proliferation and invasion: a therapeutic target in human glioma.
OncotargetThe TREM2-DAP12 signaling pathway in Nasu-Hakola disease: a molecular genetics perspective.
Research and reports in biochemistryThe Triggering Receptor Expressed on Myeloid Cells 2 Binds Apolipoprotein E.
The Journal of biological chemistryTREM2 mRNA Expression in Leukocytes Is Increased in Alzheimer's Disease and Schizophrenia.
PloS oneImmunohistochemical characterization of CD33 expression on microglia in Nasu-Hakola disease brains.
Neuropathology : official journal of the Japanese Society of NeuropathologyIntroducing directly induced microglia-like (iMG) cells from fresh human monocytes: a novel translational research tool for psychiatric disorders.
Frontiers in cellular neuroscienceVariable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.
NeurogeneticsTREM2 sustains microglial expansion during aging and response to demyelination.
The Journal of clinical investigationThe Role of TREM2 in Alzheimer's Disease and Other Neurological Disorders.
Journal of Alzheimer's disease & ParkinsonismDisease-Associated Mutations of TREM2 Alter the Processing of N-Linked Oligosaccharides in the Golgi Apparatus.
Traffic (Copenhagen, Denmark)A Comprehensive Profile of ChIP-Seq-Based PU.1/Spi1 Target Genes in Microglia.
Gene regulation and systems biologyAssociações
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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.
- A Novel Rare Homozygous R47C Variant in TREM2 with Frontal Variant Alzheimer's Disease.
- System biology and network-based approach to identify the therapeutic signatures and potential inhibitors against polycystic lipomembranous osteodysplasia with Sclerosing Leukoencephalopathy.
- TREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting.
- Neuroglia in leukodystrophies.
- Generation of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene.
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy.
- Nasu-Hakola Disease Presenting as Rapidly Progressive Dementia With Seizures: A TREM2 Mutation Case Without Skeletal Involvement.
- Roles of TREM2 in Alzheimer's disease.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2770(Orphanet)
- MONDO:0009092(MONDO)
- GARD:9921(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3281284(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