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Demência fronto-temporal
ORPHA:282CID-10 · G31.0CID-11 · 6D83DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
neuroInício adultaHerança AD
Também conhecida comoFTDDFT

A Demência Frontotemporal (DFT) abrange um grupo de doenças neurodegenerativas, ou seja, condições do cérebro que pioram com o tempo. É caracterizada por alterações progressivas no comportamento, dificuldades de planejamento e tomada de decisões (o que chamamos de disfunção executiva), e problemas de linguagem. Esses problemas surgem devido à degeneração de áreas específicas do cérebro, como as regiões pré-frontal medial e frontoinsular. Foram identificados quatro subtipos clínicos: a demência semântica, a afasia progressiva não-fluente, a DFT variante comportamental e a atrofia lobar temporal direita.

Em construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A demência frontotemporal relacionada ao CHMP2B é um distúrbio cerebral progressivo que afeta a personalidade, o comportamento e a linguagem. Os sintomas desse distúrbio geralmente se tornam perceptíveis nos cinquenta ou sessenta anos de idade, e as pessoas com a condição sobrevivem cerca de 3 a 21 anos após o aparecimento dos sintomas.

Alterações na personalidade e no comportamento são os sinais iniciais mais comuns da demência frontotemporal relacionada ao CHMP2B. Essas mudanças incluem respostas emocionais inadequadas, inquietação, perda de iniciativa e negligência da higiene pessoal. As pessoas com a condição podem comer excessivamente alimentos doces ou colocar objetos não alimentares na boca (hiperoralidade). Além disso, pode tornar‑se difícil para elas interagirem com outras pessoas de maneira socialmente apropriada. Elas passam a precisar cada vez mais de ajuda com os cuidados pessoais e outras atividades da vida diária.

Muitas pessoas com a demência frontotemporal relacionada ao CHMP2B desenvolvem problemas progressivos de fala e linguagem (afasia). Elas podem ter dificuldade para falar, embora frequentemente consigam compreender a fala de outras pessoas e textos escritos. As pessoas com a condição também podem ter dificuldade em usar números (discalculia). Nos estágios mais avançados da doença, muitas perdem completamente a capacidade de se comunicar.

Vários anos após o surgimento dos primeiros sinais e sintomas, algumas pessoas com a demência frontotemporal relacionada ao CHMP2B desenvolvem problemas de movimento. Essas anomalias motoras incluem rigidez, tremores, tensão muscular descontrolada (distonia) e espasmos musculares involuntários (mioclonia). À medida que a doença progride, a maioria das pessoas com a condição torna‑se incapaz de andar.

Fonte: MedlinePlus Genetics (NLM/NIH), traduzido
📋
Informacoes curadas por IA — podem conter imprecisoes

A Demência Frontotemporal (DFT) abrange um grupo de doenças neurodegenerativas, ou seja, condições do cérebro que pioram com o tempo. É caracterizada por alterações progressivas no comportamento, dificuldades de planejamento e tomada de decisões (o que chamamos de disfunção executiva), e problemas de linguagem. Esses problemas surgem devido à degeneração de áreas específicas do cérebro, como as regiões pré-frontal medial e frontoinsular. Foram identificados quatro subtipos clínicos: a demência semântica, a afasia progressiva não-fluente, a DFT variante comportamental e a atrofia lobar temporal direita.

Pesquisas ativas
86 ensaios
218 total registrados no ClinicalTrials.gov
Publicações científicas
10.972 artigos
Último publicado: 2026 Apr 15
Em pesquisa
6 moléculas
MEMANTINE HYDROCHLORIDE, MEMANTINE, TOLCAPONE

O que está sendo pesquisado

6 moléculas em estudo — nenhuma com registro para esta doença
Ver detalhes e fases →
MEMANTINE HYDROCHLORIDEMEMANTINETOLCAPONELITHIUM CARBONATEINSULIN HUMANMETFORMIN
Aparecer aqui significa que a molécula foi estudada nesta doença, não que trate. Converse com seu médico.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
3.0
Europe
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: G31.0
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
36 sintomas
💪
Músculos
28 sintomas
🦴
Ossos e articulações
14 sintomas
🫘
Rins
4 sintomas
👁️
Olhos
3 sintomas
❤️
Coração
2 sintomas

+ 73 sintomas em outras categorias

Características mais comuns

—
Paralisia bulbar
—
Morfologia anormal do neurônio motor
—
Corpos de Lewy
—
Ecolalia
—
Hiperlordose lombar
—
Agnosia visual
165sintomas
Sem dados (165)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 165 características clínicas mais associadas, ordenadas por frequência.

Paralisia bulbarBulbar palsy
Morfologia anormal do neurônio motorAbnormal motor neuron morphology
Corpos de LewyLewy bodies
EcolaliaEcholalia
Hiperlordose lombarLumbar hyperlordosis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico10.972PubMed
Últimos 10 anos200publicações
Pico2026194 papers
Linha do tempo
2026Hoje · 2026🧪 1991Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

11 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.

GRNProgranulinDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (1)
Neutrophil degranulation
MECANISMO DE DOENÇA

Frontotemporal dementia 2

A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. Gestural apraxia, parkinsonism, visual loss, and visual hallucinations are present in 25 to 40% of patients.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
503.8 TPM
Baço
384.4 TPM
Pulmão
354.8 TPM
Sangue
300.9 TPM
Fibroblastos
292.5 TPM
OUTRAS DOENÇAS (5)
neuronal ceroid lipofuscinosis 11GRN-related frontotemporal lobar degeneration with Tdp43 inclusionssemantic dementiaprogressive non-fluent aphasia
HGNC:4601UniProt:P28799
MAPTMicrotubule-associated protein tauDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (1)
Caspase-mediated cleavage of cytoskeletal proteins
EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
223.0 TPM
Cérebro - Hemisfério cerebelar
218.9 TPM
Córtex cerebral
161.2 TPM
Brain Frontal Cortex BA9
156.7 TPM
Brain Anterior cingulate cortex BA24
104.1 TPM
OUTRAS DOENÇAS (10)
Pick diseaseprogressive supranuclear palsy-parkinsonism syndromesemantic dementiasupranuclear palsy, progressive, 1
HGNC:6893UniProt:P10636
TMEM106BTransmembrane protein 106BCandidate gene tested inTolerante
MECANISMO DE DOENÇA

Frontotemporal dementia 2

A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. Gestural apraxia, parkinsonism, visual loss, and visual hallucinations are present in 25 to 40% of patients.

EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Endocervix
14.8 TPM
Útero
14.5 TPM
Cervix Ectocervix
14.3 TPM
Glândula adrenal
13.7 TPM
Fallopian Tube
12.2 TPM
OUTRAS DOENÇAS (4)
leukodystrophy, hypomyelinating, 16behavioral variant of frontotemporal dementiaprogressive non-fluent aphasiasemantic dementia
HGNC:22407UniProt:Q9NUM4
PSEN1Presenilin-1Disease-causing germline mutation(s) inAltamente restrito
VIAS BIOLÓGICAS (1)
Neutrophil degranulation
MECANISMO DE DOENÇA

Alzheimer disease 3

A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
39.3 TPM
Skin Sun Exposed Lower leg
25.1 TPM
Skin Not Sun Exposed Suprapubic
22.8 TPM
Nervo tibial
20.5 TPM
Fibroblastos
19.7 TPM
OUTRAS DOENÇAS (9)
semantic dementiaPick diseaseAlzheimer disease 3acne inversa, familial, 3
HGNC:9508UniProt:P49768
TREM2Triggering receptor expressed on myeloid cells 2Candidate gene tested inTolerante
VIAS BIOLÓGICAS (4)
DAP12 signalingDAP12 interactionsOther semaphorin interactionsImmunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
47.7 TPM
Substância negra
20.1 TPM
Pulmão
17.4 TPM
Nervo tibial
14.5 TPM
Hipotálamo
10.7 TPM
OUTRAS DOENÇAS (8)
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2amyotrophic lateral sclerosisprogressive non-fluent aphasiabehavioral variant of frontotemporal dementia
HGNC:17761UniProt:Q9NZC2
VCPTransitional endoplasmic reticulum ATPaseDisease-causing germline mutation(s) inAltamente restrito
VIAS BIOLÓGICAS (10)
AggrephagyAttachment and EntryAttachment and EntryAMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)ABC-family proteins mediated transport
MECANISMO DE DOENÇA

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1

An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
229.2 TPM
Linfócitos
209.1 TPM
Músculo esquelético
193.2 TPM
Aorta
172.4 TPM
Útero
171.2 TPM
OUTRAS DOENÇAS (10)
frontotemporal dementia and/or amyotrophic lateral sclerosis 6inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1Charcot-Marie-Tooth disease type 2Yamyotrophic lateral sclerosis
HGNC:12666UniProt:P55072
CHMP2BCharged multivesicular body protein 2bDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (1)
Late endosomal microautophagy
MECANISMO DE DOENÇA

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia (FTD) is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis (ALS) is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS7 is an autosomal dominant form characterized by onset of ALS or FTD in adulthood. A few patients may have both phenotypes.

OUTRAS DOENÇAS (5)
frontotemporal dementia and/or amyotrophic lateral sclerosis 7semantic dementiaprogressive non-fluent aphasiaamyotrophic lateral sclerosis
HGNC:24537UniProt:Q9UQN3
HNRNPA1Heterogeneous nuclear ribonucleoprotein A1Disease-causing germline mutation(s) inAltamente restrito
VIAS BIOLÓGICAS (5)
FGFR2 alternative splicingmRNA Splicing - Major PathwaymRNA PolyadenylationProcessing of Capped Intron-Containing Pre-mRNADengue Virus-Host Interactions
MECANISMO DE DOENÇA

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3

An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
1092.5 TPM
Linfócitos
728.9 TPM
Cervix Ectocervix
629.5 TPM
Cervix Endocervix
629.4 TPM
Útero
591.7 TPM
OUTRAS DOENÇAS (5)
inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3amyotrophic lateral sclerosis type 20Finnish upper limb-onset distal myopathyamyotrophic lateral sclerosis
HGNC:5031UniProt:P09651
ANXA11Annexin A11Disease-causing germline mutation(s) inTolerante
MECANISMO DE DOENÇA

Amyotrophic lateral sclerosis 23

A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS23 is an autosomal dominant form with incomplete penetrance.

INTERAÇÕES PROTEICAS (5)
OUTRAS DOENÇAS (3)
inclusion body myopathy and brain white matter abnormalitiesamyotrophic lateral sclerosis type 23amyotrophic lateral sclerosis
HGNC:535UniProt:P50995
SQSTM1Sequestosome-1Disease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (9)
PINK1-PRKN Mediated MitophagyPexophagyNF-kB is activated and signals survivalp75NTR recruits signalling complexesInterleukin-1 signaling
MECANISMO DE DOENÇA

Paget disease of bone 3

A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
155.2 TPM
Artéria tibial
140.4 TPM
Aorta
135.6 TPM
Fibroblastos
134.0 TPM
Glândula adrenal
131.3 TPM
OUTRAS DOENÇAS (8)
Paget disease of bone 3myopathy, distal, with rimmed vacuolesneurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetfrontotemporal dementia and/or amyotrophic lateral sclerosis 3
HGNC:11280UniProt:Q13501
HNRNPA2B1Heterogeneous nuclear ribonucleoproteins A2/B1Disease-causing germline mutation(s) inAltamente restrito
VIAS BIOLÓGICAS (1)
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
MECANISMO DE DOENÇA

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
889.4 TPM
Linfócitos
838.4 TPM
Útero
763.3 TPM
Cervix Endocervix
691.2 TPM
Cervix Ectocervix
681.9 TPM
OUTRAS DOENÇAS (3)
oculopharyngeal muscular dystrophy 2inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HGNC:5033UniProt:P22626

Medicamentos e terapias

MEMANTINE HYDROCHLORIDEPhase 3

Mecanismo: Glutamate [NMDA] receptor negative allosteric modulator

MEMANTINEPhase 3

Mecanismo: Glutamate [NMDA] receptor negative allosteric modulator

TOLCAPONEPhase 2

Mecanismo: Catechol O-methyltransferase inhibitor

LITHIUM CARBONATEPhase 2

Mecanismo: Inositol-1(or 4)-monophosphatase 1 inhibitor

INSULIN HUMANPhase 2

Mecanismo: Insulin receptor agonist

METFORMINPhase 2

Mecanismo: Mitochondrial complex I (NADH dehydrogenase) inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

384 variantes patogênicas registradas no ClinVar.

🧬 GRN: NM_002087.4(GRN):c.784_785del (p.Ser262fs) ()
🧬 GRN: NM_002087.4(GRN):c.1724G>C (p.Arg575Thr) ()
🧬 GRN: NM_002087.4(GRN):c.1156_1157del (p.Trp386fs) ()
🧬 GRN: NM_002087.4(GRN):c.264+2T>C ()
🧬 GRN: NM_002087.4(GRN):c.29T>C (p.Leu10Ser) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 3.298 variantes classificadas pelo ClinVar.

2309
989
VUS (70.0%)
Benigna (30.0%)
VARIANTES MAIS SIGNIFICATIVAS
HNRNPA2B1: NM_002137.4(HNRNPA2B1):c.812A>G (p.Tyr271Cys) [Uncertain significance]
MAPT: NM_001377265.1(MAPT):c.2272G>A (p.Gly758Arg) [Uncertain significance]
TBK1: NM_013254.4(TBK1):c.1310A>T (p.Glu437Val) [Uncertain significance]
TBK1: NM_013254.4(TBK1):c.1928A>T (p.Glu643Val) [Uncertain significance]
TBK1: NM_013254.4(TBK1):c.433A>G (p.Ile145Val) [Uncertain significance]

Vias biológicas (Reactome)

65 vias biológicas associadas aos genes desta condição.

Neutrophil degranulation Caspase-mediated cleavage of cytoskeletal proteins Activation of AMPK downstream of NMDARs PKR-mediated signaling Nuclear signaling by ERBB4 Degradation of the extracellular matrix Regulated proteolysis of p75NTR NRIF signals cell death from the nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus EPH-ephrin mediated repulsion of cells NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH4 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3 TGFBR3 PTM regulation Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell DAP12 interactions DAP12 signaling Other semaphorin interactions Translesion Synthesis by POLH HSF1 activation ABC-family proteins mediated transport N-glycan trimming in the ER and Calnexin/Calreticulin cycle Hedgehog ligand biogenesis Hh mutants are degraded by ERAD Defective CFTR causes cystic fibrosis Josephin domain DUBs Ovarian tumor domain proteases E3 ubiquitin ligases ubiquitinate target proteins Protein methylation Neddylation RHOH GTPase cycle Aggrephagy Attachment and Entry Attachment and Entry KEAP1-NFE2L2 pathway Dengue Virus Genome Translation and Replication AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274) Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide Budding and maturation of HIV virion Macroautophagy Pyroptosis Endosomal Sorting Complex Required For Transport (ESCRT) HCMV Late Events Late endosomal microautophagy Sealing of the nuclear envelope (NE) by ESCRT-III Translation of Replicase and Assembly of the Replication Transcription Complex Translation of Replicase and Assembly of the Replication Transcription Complex FGFR2 alternative splicing mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA SARS-CoV-1-host interactions SARS-CoV-1 modulates host translation machinery mRNA Polyadenylation Dengue Virus-Host Interactions p75NTR recruits signalling complexes NF-kB is activated and signals survival PINK1-PRKN Mediated Mitophagy Interleukin-1 signaling Pexophagy Signaling by ALK fusions and activated point mutants Nuclear events mediated by NFE2L2 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
✓Aprovado2
3Fase 32
2Fase 217
1Fase 16
·Pré-clínico79
Medicamentos catalogadosEnsaios clínicos· 6 medicamentos · 100 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Demência fronto-temporal

🗺️

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

Onde estão os ensaios

Com ensaio aberto em 18 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

58 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT06733714 · Association of Transcranial Alternating Current Stimulation …Recrutando
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NA🇺🇸 Estados Unidos
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🇫🇷 França
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NA🇧🇪 Bélgica
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NA🇮🇹 Itália
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NA🇺🇸 Estados Unidos
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NA🇺🇸 Estados Unidos
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Publicações mais relevantes

Timeline de publicações
7.341 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 7.341

#1

Efficacy and safety of oral semaglutide 14 mg (flexible dose) in early-stage symptomatic Alzheimer's disease (evoke and evoke+): two phase 3, randomised, placebo-controlled trials.

Lancet (London, England)2026 Mar 19

Dois grandes estudos de fase 3 (evoke e evoke+) investigaram a eficácia da semaglutida oral em pacientes com doença de Alzheimer em estágio inicial. Contrariando as expectativas, os resultados mostraram que o medicamento não foi eficaz em retardar a progressão clínica da doença, levando ao encerramento dos ensaios devido a resultados negativos. A segurança e tolerabilidade da semaglutida foram consistentes com as observadas em outras indicações, sem novas preocupações significativas nesta população.

🇧🇷 traduzido
#2

Frontotemporal lobar degeneration complexity: atypical presentations and heterogeneous proteinopathies in five cases.

Frontiers in neuroscience2026

Este estudo destaca a complexidade da Demência Frontotemporal (DFT), revelando que a apresentação clínica pode ser enganosa e nem sempre refletir a patologia cerebral subjacente. Muitas vezes, condições como a Doença de Alzheimer ou outras múltiplas patologias podem mimetizar a DFT ou coexistir, sendo a localização do dano cerebral mais determinante para os sintomas do que a proteína específica envolvida. Para um diagnóstico etiológico preciso e definitivo, o exame neuropatológico pós-morte é essencial, fornecendo clareza crucial para pacientes e médicos.

🇧🇷 traduzido
#3

TBK1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Mechanistic Insights into Impaired Autophagy and Proteostatic Failure.

Cells2026 Mar 06

Mutações no gene TBK1 são uma causa genética importante que liga a Demência Frontotemporal (DFT) e a Esclerose Lateral Amiotrófica (ELA). O TBK1 é essencial para o processo de "limpeza" das células (autofagia), que remove componentes danificados; as mutações neste gene comprometem essa função vital, levando ao acúmulo de "lixo" celular. Para pacientes e médicos, essa descoberta é crucial para compreender a base genética dessas doenças, auxiliar no diagnóstico e aconselhamento familiar, e direcionar o desenvolvimento de novas terapias que visem restaurar a autofagia.

🇧🇷 traduzido
#4

Role of Alpha-Synuclein in Frontotemporal Dementia: Narrative Review.

Cells2026 Mar 05

Este artigo enfatiza que, apesar da Demência Frontotemporal (DFT) ser tradicionalmente ligada às proteínas tau ou TDP-43, a presença de alfa-sinucleína (α-Syn) é um fator crucial e subestimado para a progressão da doença. A α-Syn frequentemente co-agrega com outras proteínas, acelerando a perda neuronal, contribuindo para a rápida deterioração cognitiva e a complexidade clínica da DFT. Para pacientes e médicos, isso significa que os diagnósticos atuais podem estar incompletos, não detectando essa importante co-patologia, o que pode explicar a limitada eficácia de tratamentos focados em uma única proteína. Os achados ressaltam a necessidade de futuras estratégias terapêuticas e diagnósticas que abordem múltiplas proteínas para combater a toxicidade sinérgica e melhorar os resultados.

🇧🇷 traduzido
#5

Reversibility and β-sheet formation are decoupled in tau condensate aging.

Proceedings of the National Academy of Sciences of the United States of America2026 Mar 17

Este estudo fundamental sobre a proteína tau na demência frontotemporal (DFT) revela que as duas características principais da patologia – a formação de estruturas anormais (β-sheet) e a irreversibilidade dos agregados de tau – não acontecem simultaneamente, sendo processos independentes. Isso significa que alguns agregados de tau podem ter a estrutura "ruim" mas ainda serem reversíveis, e outros serem irreversíveis sem essa estrutura típica. Para pacientes e médicos, essa descoberta é crucial, pois sugere a existência de múltiplas e diversas janelas terapêuticas para intervir, potencialmente permitindo impedir ou reverter a progressão da doença antes que os agregados se tornem irreversíveis e danosos.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC4.220 artigos no totalmostrando 198

2026

The Benson Complex Figure Test for the Differential Diagnosis of Dementias.

NeuroSci
2026

The performance of plasma pTau181 and pTau217 in distinguishing Alzheimer's disease from various neurodegenerative disorders, psychiatric disorders, and cognitively unimpaired controls.

Journal of Alzheimer's disease : JAD
2026

Free water changes and their correlations with multimodal biomarkers in frontotemporal dementia.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Efficacy and safety of oral semaglutide 14 mg (flexible dose) in early-stage symptomatic Alzheimer's disease (evoke and evoke+): two phase 3, randomised, placebo-controlled trials.

Lancet (London, England)
2026

Behavioral and psychological symptoms of dementia: A scoping review of evidence from India.

Asian journal of psychiatry
2026

Eye-brain coupling-mediated eye movement abnormalities as non-invasive biomarkers for mild cognitive impairment: A systematic review.

Journal of Alzheimer's disease : JAD
2026

Non-pharmaceutical interventions for persons living with young-onset dementia and their informal caregivers: A systematic review with meta-analysis.

Journal of Alzheimer's disease : JAD
2026

Scientific knowledge about dementia: From the Global South to the world.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Herpesvirus genome integration in whole-genome sequences of dementia and control cohorts.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Role of astrocyte biomarker GFAP in early diagnosis and prognosis assessment of dementia: A comprehensive review.

International journal of biological macromolecules
2026

Impact of diagnostic genetic testing for familial dementia: experiences of patients and relatives.

Alzheimer's research &amp; therapy
2026

Association between exogenous hormone use and dementia: A prospective cohort study and synthetic analysis.

Maturitas
2026

[Magnetic resonance imaging in dementia].

Radiologie (Heidelberg, Germany)
2026

Unveiling discrepancies in depression detection among persons with dementia: A comparative analysis of caregiver and self-report.

Journal of Alzheimer's disease : JAD
2026

Decoding neurodegeneration one cell at a time.

The Journal of clinical investigation
2026

Splicing the narrative: alternative TARDBP splicing and its relation to neurodegeneration in ALS and FTD.

The Journal of clinical investigation
2026

Frontotemporal lobar degeneration complexity: atypical presentations and heterogeneous proteinopathies in five cases.

Frontiers in neuroscience
2026

Validation of a novel cognitive-functional outcome measure optimized for early Alzheimer's Disease: Evidence from the VIVA-MIND trial.

The journal of prevention of Alzheimer's disease
2026

Deep Learning-Based Alzheimer's Disease Detection from Multi-Channel EEG Using Fused Time-Frequency Image Grids.

Diagnostics (Basel, Switzerland)
2026

TBK1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Mechanistic Insights into Impaired Autophagy and Proteostatic Failure.

Cells
2026

Role of Alpha-Synuclein in Frontotemporal Dementia: Narrative Review.

Cells
2026

Cognitive and behavioral involvement in spinal and bulbar muscular atrophy (SBMA): a systematic review.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2026

Reversibility and β-sheet formation are decoupled in tau condensate aging.

Proceedings of the National Academy of Sciences of the United States of America
2026

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.

Nature genetics
2026

Molecular Complexities of Dementia: PAISA Mutations and Targeting TAF2N as Therapeutic Avenues.

Current gene therapy
2026

A Novel Rare Homozygous R47C Variant in TREM2 with Frontal Variant Alzheimer's Disease.

Neurology India
2026

Microglia protein profiles in CSF across Alzheimer's disease clinical stages.

Nature aging
2026

ALS and Huntington Disease: Unraveling the Connections between TDP-43 and Huntingtin.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2026

PAICS mediates DNA damage and cerebellar neuronal loss in C9orf72 amyotrophic lateral sclerosis.

Brain : a journal of neurology
2026

Elevating Neuronal CYLD Causes Frontotemporal Dementia (FTD)-Relevant Behavioral and Physiological Deficits.

bioRxiv : the preprint server for biology
2026

Fructose-2,6-bisphosphate restores TDP-43 pathology-driven genome repair deficiency in motor neuron diseases.

Communications biology
2026

TDP-43 pathology triggers neuroinflammation and cognitive impairment by inducing microglial necroptosis.

EMBO molecular medicine
2026

Graph empirical mode decomposition and multiscale feature extraction for EEG-based classification of Alzheimer's disease and frontotemporal dementia.

Computer methods and programs in biomedicine
2026

Cofilin hyperphosphorylation triggers TDP-43 pathology in sporadic amyotrophic lateral sclerosis.

Brain : a journal of neurology
2026

Exploring neuropsychiatric and behavioral symptoms, and social cognitive deficits in the differential diagnosis of behavioral variant of frontotemporal dementia and primary psychiatric disorders: A systematic literature review.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2026

Multi-modal dissection of cell-type specific TDP-43 pathology in the motor cortex.

Nature communications
2026

Behavioural rigidity as a transdiagnostic marker of nucleus accumbens dysfunction in dementia.

Brain : a journal of neurology
2026

White Matter Hyperintensities in Behavioral Variant Frontotemporal Dementia and Semantic Variant Primary Progressive Aphasia.

Neurology open access
2026

RNA-Binding Proteins TDP-43 and FUS Promote R-Loop Resolution and Regulate Transcription Termination.

The Journal of biological chemistry
2026

Decoding the functions of nuclear speckles in neurodegeneration.

Trends in neurosciences
2026

Pathogenic VCP (p.Arg453Trp) variant in three siblings with frontotemporal dementia-amyotrophic lateral sclerosis spectrum: A Turkish family.

Clinical neurology and neurosurgery
2026

Von Economo Neuron Loss in Frontotemporal Dementia: A Meta-Analysis of Neuropathological Studies.

Annals of clinical and translational neurology
2026

Transcriptomic signature of frontotemporal lobar degeneration with TDP-43 type C pathology.

Brain : a journal of neurology
2026

Quantitative EEG signatures of power and functional connectivity alterations in Alzheimer's disease and frontotemporal dementia.

Scientific reports
2026

REM sleep behavior disorder as a shared motor phenotype: A multidimensional clinical study.

Sleep medicine
2026

From scaffold to effector: reframing GFAP in neurodegeneration.

Journal of advanced research
2026

A CNN-transformer fusion for EEG-based discrimination of Alzheimer's and frontotemporal dementia.

Physical and engineering sciences in medicine
2026

Integrating attractor dynamics and connectivity features for EEG-based dementia classification.

Scientific reports
2026

A Unique EEG-Hyfusion Fully Automated Stacked Model for Classification of Alzheimer's Disease and Fronto-Temporal Dementia.

Journal of visualized experiments : JoVE
2026

Moral decision-making in patients with neurodegenerative diseases: a systematic review.

Frontiers in psychology
2026

Accuracy of clinical diagnosis of behavioral variant frontotemporal dementia: A systematic review and meta-analysis.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2026

Network-based cortical atrophy predicts longitudinal clinical decline in sporadic behavioral variant frontotemporal dementia.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2026

Ginsenoside compound K inhibited the gelation of GGGGCC repeats and regulated co-aggregation with arginine-rich poly-dipeptides in C9orf72-related ALS.

International journal of biological macromolecules
2026

Short tandem repeat expansions in patients with neurodegenerative dementia.

EBioMedicine
2026

Deep learning-based synthetic brain MRI for the assessment of regional atrophy patterns in neurodegenerative diseases.

European radiology
2026

Nuclear tau aggregates inhibit RNA export and form by secondary seeding from cytosolic tau aggregates.

bioRxiv : the preprint server for biology
2026

Amyotrophic Lateral Sclerosis (ALS) Genetics and Microbiota: A Comprehensive Review.

International journal of molecular sciences
2026

Multi-Entropy Feature Concatenation for Data-Efficient Cross-Subject Classification of Alzheimer's Disease and Frontotemporal Dementia from Single-Channel EEG.

Entropy (Basel, Switzerland)
2026

An Artificial Intelligence-Driven Multimorbidity Framework Reveals a Shared Metabolic and Immune Core Across Alzheimer's Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia.

Biomedicines
2026

Dynamic Mode Decomposition-Based Clustered Pattern Projection for Reliable Alzheimer's Disease Detection from EEG.

Diagnostics (Basel, Switzerland)
2026

Autonomic dysfunction and hypothalamic atrophy in frontotemporal dementia and primary psychiatric disorders.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2026

Immune cells play a mediating role in the relationship between the gut microbiota and dementia: A Mendelian randomization study.

Innate immunity
2026

Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders.

Degenerative neurological and neuromuscular disease
2026

CPEB3 selectively inhibits α-synuclein aggregation without modulating TDP-43 pathology.

FEBS letters
2026

TDP-43 pathology is linked to motor neuron loss but is independent of stress granules in vivo.

bioRxiv : the preprint server for biology
2026

Intrathecal (G4C2)149 delivery in C9orf72-deficient mice yields mild motor dysfunction and ALS/FTD pathological hallmarks.

bioRxiv : the preprint server for biology
2026

Discovery of TDP-43 aggregation inhibitors via a hybrid machine learning framework.

bioRxiv : the preprint server for biology
2026

Distinct mechanistic pathways of early tauopathy revealed by MAPT mutations.

bioRxiv : the preprint server for biology
2026

Accurate strand-specific long-read transcript isoform discovery and quantification at bulk, single-cell, and single-nucleus resolution.

bioRxiv : the preprint server for biology
2026

Exploring the PLD1-tau interaction in Frontotemporal Dementia.

bioRxiv : the preprint server for biology
2026

Distinct tau filament folds in familial frontotemporal dementia due to the MAPT S305I mutation.

bioRxiv : the preprint server for biology
2026

Role of nuclear import proteins in maintaining proteostasis and disease pathogenesis.

Biochemical pharmacology
2026

Advanced neuroimaging assessment of neurodegenerative dementia syndromes: A framework for comprehensive multimodal FDG-PET, MR-perfusion, and MR-diffusion analysis.

NeuroImage. Clinical
2026

A path to preventing cognitive impairment due to Alzheimer's disease: initiatives beginning in the USA.

The Lancet. Neurology
2026

Accuracy of clinical diagnosis in neurodegenerative diseases - a study of 455 autopsy cases.

Journal of neurology
2026

Artificial microRNAs targeting tau enable post-symptomatic functional recovery in aged tauopathy mice.

Molecular therapy. Nucleic acids
2026

Lesion network mapping of focal injury-related aggression finds two distinct network injury patterns.

Brain communications
2026

Increased neuronal activity restores circadian function in Drosophila models of C9orf72-ALS/FTD.

iScience
2026

Mapping the clinical correlates of brain hypoperfusion in behavioral variant frontotemporal dementia: insights from a SPECT imaging study.

Frontiers in neuroscience
2026

CSF protein biomarkers are associated with atrophy and symptom severity in genetic FTD: a GENFI study.

Journal of neural transmission (Vienna, Austria : 1996)
2026

Vulnerability of anterior cingulate Von Economo neurons to FTLD-tauopathies in behavioral variant frontotemporal dementia.

Cerebral cortex (New York, N.Y. : 1991)
2026

EEG network reorganization across Alzheimer's disease, frontotemporal dementia, and dementia with Lewy bodies.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2026

Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study.

Human genetics
2026

GLP-1 receptor agonists reduce dementia and Alzheimer disease risk in diabetic Patients with CKD.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2026

Refolding-assisted purification of native full-length TDP-43 compatible with BSL-2 safety regulations.

Methods (San Diego, Calif.)
2026

Molecular and Microstructural MRI of Neuroinflammation in Alzheimer's Disease.

Current Alzheimer research
2026

Additive value of early-phase β-Amyloid-PET for the differential diagnosis of non-Alzheimer's disease dementia.

NeuroImage. Clinical
2026

Spatiotemporal transcriptomic profiling reveals upregulation of glycolysis pathway genes before overt tauopathy in the PS19 mouse model.

Experimental &amp; molecular medicine
2026

Classification of tauopathies from human brain homogenates through salt-modulated tau amplification.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Transplantation of Human IPSC-derived Microglia Ameliorates Neuropathology and Circuit Dysfunction in Progranulin-Deficient Mice.

Research square
2026

From Evasion to Collapse: The Kinetic Cascade of TDP-43 and the Failure of Proteostasis.

International journal of molecular sciences
2026

Cognitive Impairment, Dementia and Depression in Older Adults.

Journal of clinical medicine
2026

Composite grey matter fingerprints for genetic frontotemporal dementia.

Journal of neurology, neurosurgery, and psychiatry
2026

Gene-specific impacts on brain architecture in genetic frontotemporal dementia.

Journal of neurology, neurosurgery, and psychiatry
2026

Apathy mediates the relationship between uncinate fasciculus fractional anisotropy and depression in healthy adults.

Brain research bulletin
2026

A new graph-transformer framework for EEG-based differentiation of Alzheimer's disease and frontotemporal dementia.

Biomedical physics &amp; engineering express
2026

Missense variants in TUBA4A cause myo-tubulinopathies.

Brain : a journal of neurology
2026

Mitochondria and Lipid Defects in Hereditary Progranulin-Related Frontotemporal Dementia.

Cells
2026

High vulnerability of medial prefrontal pyramidal neurons in post-stroke, vascular, Alzheimer's disease, and aging-related dementias.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Morphometric features enhance phenotype discrimination in frontotemporal lobar degeneration.

Brain communications
2026

p62/SQSTM1 Condensation Modulates Mitochondrial Clustering to Participate in Mitochondrial Quality Control.

Aging cell
2026

Implications of virus-induced stress granules in tauopathies.

Translational neurodegeneration
2026

Development and validation of a novel panel of CSF biomarkers for Alzheimer's disease.

Alzheimer's research &amp; therapy
2026

Real-world evaluation of Armstrong's criteria in corticobasal degeneration: Phenotypic overlap and diagnostic challenges.

Parkinsonism &amp; related disorders
2026

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles.

Annals of neurology
2026

Lost in translation: absence of KIAA1324/ELAPOR1 protein in pathological TDP-43-affected neurons in ALS/FTD.

Acta neuropathologica communications
2026

Behavioral Variant Frontotemporal Dementia With C9orf72 Intermediate Repeat Expansion : A case report.

Alzheimer disease and associated disorders
2026

Risk of Dementia in Type 2 Diabetes Patients With Open-Angle Glaucoma: Insights From a Nationwide Real-World Cohort Study.

American journal of ophthalmology
2026

Repetitive behaviors in syndromes associated with frontotemporal lobar degeneration.

Journal of Alzheimer's disease : JAD
2026

Loss of CAMKK2 and iron-transport proteins-transferrin and its receptor-in the Alzheimer's disease hippocampus: link to tau pathology.

Frontiers in cell and developmental biology
2026

Dynamic conformational ensembles of soluble Tau encode neuronal toxicity prior to aggregation.

bioRxiv : the preprint server for biology
2026

Oxytocin reduces anger bias, harm-intention recognition, and self-focus in behavioral variant frontotemporal dementia: a randomized double-blind placebo-controlled crossover trial.

Frontiers in aging neuroscience
2026

Targeted CSF metabolomics and conformal prediction improve diagnostic accuracy of normal pressure hydrocephalus.

Fluids and barriers of the CNS
2026

Genetic evidence on the association between pulmonary function and cognitive impairment: A 2-sample Mendelian randomization study.

Medicine
2026

A Single-Item Screening Tool for the Assessment of Hoarding: Preliminary Observations.

The Journal of neuropsychiatry and clinical neurosciences
2026

Clinical Validation of the Behavioral Evaluation Scale of Frontotemporal Dementia: A Pilot Study.

The Journal of neuropsychiatry and clinical neurosciences
2026

Distinct TAF15 amyloid filament folds define multiple subtypes of FTLD-TAF15.

bioRxiv : the preprint server for biology
2026

Multimodal semantic knowledge of emotion concepts in frontotemporal dementia.

medRxiv : the preprint server for health sciences
2026

Axonal dying back of upper motor neurons in human ALS.

Research square
2026

FUS and TDP-43 aggregation are uncoupled from toxicity in ageing yeast models.

BMC biology
2026

TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.

Annals of clinical and translational neurology
2026

C9orf72 hexanucleotide repeat RNA drives transcriptional dysregulation through genome-wide DNA:RNA hybrid G-quadruplexes.

Neuron
2026

Blocking RAN translation without altering repeat RNAs rescues C9ORF72-related ALS and FTD phenotypes.

Science (New York, N.Y.)
2026

Thermally activated history-dependent homogenization of G-quadruplexes in an ALS/FTD-associated gene.

Biophysical journal
2026

Gamma tACS as a novel treatment for primary progressive aphasia: A pilot case series of four cases.

Brain stimulation
2026

Aberrant Splicing Signatures Underpin Oligodendrocyte Damage in ALS and Neuron Loss in FTD.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Understanding Neurodegenerative Diseases From the -Omics Perspective: Lessons Learnt.

Annals of neurology
2026

Aberrant Protein S-Nitrosylation Mimics the Effect of Rare Genetic Mutations in Neurodegenerative Diseases.

Journal of neurochemistry
2026

CSF1R mutations in an Italian population of early-onset dementia: a case series.

Journal of neurology
2026

Cognitive processes and emotion perception in frontotemporal dementia.

Cognition &amp; emotion
2026

Mixed Nonfluent/Agrammatic Primary Progressive Aphasia and Behavioral Variant Frontotemporal Dementia: A Case Report From Tanzania.

Alzheimer disease and associated disorders
2026

Aberrant CDK4/6-driven cell-cycle reentry drives neuronal loss and defines a therapeutic target in C9orf72 ALS/FTD.

iScience
2026

Blood-based biomarkers and early diagnosis of Alzheimer's disease.

Neural regeneration research
2026

Multi-dimensional EEG analysis reveals distinct neurophysiological patterns in Alzheimer's and frontotemporal dementia.

Journal of neuroengineering and rehabilitation
2026

A rostral prefrontal mediolateral gradient predicts creativity in frontotemporal dementia.

Brain : a journal of neurology
2026

Non-Huntington's disease chorea: an expanding universe with acquired causes.

Brain : a journal of neurology
2026

CRISPR screens in iPSC-derived neurons reveal principles of tau proteostasis.

Cell
2026

Elucidation of Molecular Mechanisms of Lipid-Altered Cytotoxicity of TDP-43 Fibrils.

ACS chemical neuroscience
2026

Behavioral Variant in Alzheimer's Disease.

Acta neurologica Taiwanica
2026

Social Cognition in Community Dwelling Persons With Dementia; Is Facial Emotion Recognition Related to Proxy Rated Empathy and Aggression?

International journal of geriatric psychiatry
2026

Tissue-specific immune and MAPK signatures in models of reduced Progranulin and Western diet.

Neurobiology of disease
2026

Dementia severity index: A threshold-based approach to classifying dementia levels using resting state EEG.

Computers in biology and medicine
2026

Experimental Models and Translational Strategies in Neuroprotective Drug Development with Emphasis on Alzheimer's Disease.

Molecules (Basel, Switzerland)
2026

Giant Right Sphenoid Wing Meningioma as a Reversible Frontal Network Lesion: A Pseudo-bvFTD Case with Venous-Sparing Skull-Base Resection.

Diagnostics (Basel, Switzerland)
2026

Patterns and Trajectories of Behavioral and Neuropsychiatric Symptoms in Frontotemporal Dementia and Primary Progressive Aphasia.

Neurology
2026

Behavioral and Neuropsychiatric Symptoms in Patients With Frontotemporal Dementia and Primary Progressive Aphasia.

Neurology
2026

STELLA-FTD: Examination of a Behavior Change Intervention for Frontotemporal Dementia Family Care Partners.

Alzheimer's &amp; dementia. Behavior &amp; socioeconomics of aging
2026

Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.

NPJ dementia
2026

C9orf72 in myeloid cells prevents an inflammatory response to microbial glycogen.

Cell reports
2026

Peripheral Signatures of Multidimensional Pathology in Symptomatic and Asymptomatic Creutzfeldt-Jakob Disease.

CNS neuroscience &amp; therapeutics
2026

Modeling contributions of cognition and apathy to functional impairment in younger-onset dementia.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2025

Psychometric Properties of the UCSF Fein MAC Educational & Developmental History Questionnaire:: A Novel Screening Tool for Capturing Early Life Learning Profiles Across Healthy Aging and Dementia Populations.

medRxiv : the preprint server for health sciences
2026

Extracellular Vesicle-Derived microRNAs as Fluid Biomarkers in Neurodegenerative Diseases: A Systematic Review.

Journal of neurochemistry
2026

Cytoplasmic TDP-43 leads to early behavioral impairments without neurodegeneration in a serotonergic neuron-specific C. elegans model.

Scientific reports
2026

Graph-theoretical analysis of resting-state EEG networks differentiates Alzheimer's disease and frontotemporal dementia.

The International journal of neuroscience
2026

ALS-related proteinopathies: From TDP-43 to mitochondrial proteinopathies.

Current opinion in neurobiology
2026

Direct image-guided convective perfusion of the bilateral thalami for gene therapy in frontotemporal dementia: technical note.

Journal of neurosurgery
2026

Genetic testing for adult-onset neurodegenerative diseases: A clinical perspective.

Journal of the Formosan Medical Association = Taiwan yi zhi
2026

Analyses of the Effects of Wild-Type TDP-43 Overexpression in Oxytocin Neurons in Mice.

Neuropathology and applied neurobiology
2025

Interactome screening implicates BAG6 as a suppressor of UBQLN2 misfolding in ALS/FTD.

Frontiers in molecular neuroscience
2026

Mislocalization of FTD3-associated mutant CHMP2B to the nucleus of human neurons due to loss of a nuclear export signal.

Acta neuropathologica communications
2026

A Psychosocial Intervention for Managing Disinhibition in People With the Behavioral Variant of Frontotemporal Dementia: A Matter of Focusing.

Journal of the American Medical Directors Association
2026

Electroconvulsive Therapy for Behavioral, Mood, and Catatonic Symptoms in Patients With Frontotemporal Dementia: A Literature Review.

The journal of ECT
2026

The causal effects of dementia on systemic sclerosis: a two-sample bidirectional Mendelian randomization study.

International journal of surgery (London, England)
2026

Automated item-level measures of verbal fluency in semantic and logopenic primary progressive aphasia.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Small molecule JRMS modulating importin-β1 chaperone activity as a therapeutic strategy reducing TDP-43 pathology.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
2026

γ-Radiation induces region-specific subcellular alterations of amyotrophic lateral sclerosis and frontotemporal dementia markers in swine brain.

Scientific reports
2026

Inhibiting Glycogen Synthase Kinase 3 Suppresses TDP-43-Mediated Neurotoxicity in a Caspase-Dependent Manner.

Molecular neurobiology
2026

Depression and apathy in frontotemporal dementia: a short assessment of facts and outlook.

Journal of neural transmission (Vienna, Austria : 1996)
2026

Understanding the multifaceted nature of quality of life in dementia using a transdiagnostic network analysis approach.

Aging &amp; mental health
2026

Molecular Mechanisms and Therapeutic Potential of Degron-Mediated Proteostasis Regulation in Neurodegenerative Diseases.

Cellular and molecular neurobiology
2026

[Cognitive profiles in dementia].

Vertex (Buenos Aires, Argentina)
2026

Systemic complement factors in aging, Alzheimer's disease and other dementias: a longitudinal study over 10 years.

Molecular neurodegeneration
2026

Homocysteine levels do not impact cognitive profile in frontotemporal dementia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Defining the Intestinal eCBome and Oxylipin Signaling Systems in a TDP-43 Mouse Model of Frontotemporal Dementia.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Subjective time perception in dementia: a behavioural and neuroanatomical analysis.

Brain communications
2026

Stress granules as a central hub linking organelle stress, aging, and neurodegeneration.

BMB reports
2026

Selective neuronal restoration of progranulin does not prevent the frontotemporal dementia like-phenotype of progranulin knockout mice.

Journal of neuroinflammation
2025

Shared Neuroinflammatory Mechanisms Across Dementia Types: An Integrative Review.

International journal of molecular sciences
2026

Grammatical complexity and productivity in written text in presymptomatic frontotemporal dementia: A repeated measures study.

International journal of speech-language pathology
2026

Mapping the brain atrophy mediating increased impatience for reward in frontotemporal dementia.

Communications biology
2026

EEG-based classification of alzheimer's disease and frontotemporal dementia using functional connectivity.

Scientific reports
2026

Defining RNA oligonucleotides that reverse deleterious phase transitions of RNA-binding proteins with prion-like domains.

Molecular cell
2025

Microvascular dysfunction and aberrant network activity drive reduced brain oxygenation in a mouse tauopathy model.

Research square
2026

Caregiver Burden in Prion Disease.

Dementia and geriatric cognitive disorders extra
2026

Distinct lysosomal dysfunction patterns of GRN deficiency in the CNS implicate progranulin in cell type-specific protein sorting.

bioRxiv : the preprint server for biology
2026

Generation and validation of an iPSC line HMSCATi009-A from a patient with frontotemporal dementia.

Stem cell research
2026

Targeting neuroinflammation in neurodegenerative disorders: the emerging potential of semaglutide.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
2026

H+ Ions and ATP Reshape the Conformational Landscape of an RNA Recognition Motif and Regulate Its Fibrillation.

Journal of the American Chemical Society
2026

Frontotemporal dementia: Clinical aspects, genetics, and neuropathology of a family with a C9ORF72 expansion in Argentina.

Brain pathology (Zurich, Switzerland)
2026

Restoration of progranulin by engineered hematopoietic stem cell-derived microglia corrects phenotypes of granulin knockout mice.

Science translational medicine
2025

The many faces of p97/Cdc48 in mitochondrial homeostasis.

Essays in biochemistry
2026

Investigating the Causal Relationships Between Brain Imaging Phenotypes and Dementia and Its Subtypes: Comprehensive Analysis of Structural and Resting-State Functional Imaging.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society
2026

TDP-43-mediated alternative polyadenylation is associated with a reduction in VPS35 and VPS29 expression in frontotemporal dementia.

PLoS biology
2026

Measuring Sense of Agency in Neurodegenerative Dementias: Evidence From the Intentional Binding Effect.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology
2025

The Storm Behind the Silence: Detecting Cerebral Amyloid Angiopathy-Related Inflammation in a Patient with Dementia.

Journal of Brown hospital medicine
2026

GASDERMIN D-mediated pyroptosis as a therapeutic target in TAU-dependent frontotemporal dementia mouse model.

Journal of biomedical science
2026

TBK1 orchestrates autophagy and endo-lysosomal pathways in human neurons.

Autophagy
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Doença com base genética

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Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

Atualmente, a Demência fronto-temporal é considerada uma condição neurodegenerativa progressiva e não há cura catalogada. Não há tratamentos modificadores da doença aprovados pela ANVISA ou pelo FDA.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. Reversibility and β-sheet formation are decoupled in tau condensate aging.
    Proceedings of the National Academy of Sciences of the United States of America2026PMID 41824494
  2. ORPHA:282
    Orphanet
  3. GARD:8436
    GARD (NIH)
  4. Q18592
    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.

Citar este verbete

Raras. (s.d.). Demência fronto-temporal. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/demencia-fronto-temporal

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Demência fronto-temporal
Compêndio · Raras BR

Demência fronto-temporal

ORPHA:282 · MONDO:0017276
Prevalência
1-9 / 100 000
Herança
Autosomal dominant
CID-10
G31.0 · Atrofia cerebral circunscrita
CID-11
Ensaios
86 ativos
Medicamentos
6 registrados
Início
Adult
Prevalência
3.0 (Europe)
MedGen
UMLS
C4229268
EuropePMC
Wikidata
Wikipedia
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Moléculas estudadas na doença
fonte: OpenTargets
Alvos terapêuticos
fonte: OpenTargets
Rara