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Afasia, progressiva primária, tipo não-fluente
ORPHA:100070CID-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 Complex/Unknown
Também conhecida comoPPAAPNFDFTAF

A afasia progressiva não fluente (APNF) é um tipo de demência frontotemporal (DFT). Ela se caracteriza por: dificuldade em montar frases com a gramática correta; fala arrastada e que exige muito esforço; dificuldade para ler; e dificuldade para escrever. Muitas vezes, vem acompanhada de apraxia da fala (AF), que é uma dificuldade em planejar os movimentos para falar. A capacidade de entender o que é dito ou lido costuma ser relativamente preservada.

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

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A afasia progressiva primária não fluente é um tipo de demência frontotemporal que afeta principalmente a fala e a escrita de pessoas adultas. A família costuma notar uma fala truncada, com grande esforço para articular palavras e montar frases gramaticalmente corretas, embora a pessoa ainda consiga compreender o que ouve. A causa envolve fatores genéticos múltiplos associados ao desgaste de neurônios nas regiões frontais e temporais do cérebro. A doença não possui medicamento de cura nem protocolo clínico (PCDT) próprio no SUS, sendo o acompanhamento focado na reabilitação da comunicação oferecida pela rede pública.

📋
Informacoes curadas por IA — podem conter imprecisoes

A afasia progressiva não fluente (APNF) é um tipo de demência frontotemporal (DFT). Ela se caracteriza por: dificuldade em montar frases com a gramática correta; fala arrastada e que exige muito esforço; dificuldade para ler; e dificuldade para escrever. Muitas vezes, vem acompanhada de apraxia da fala (AF), que é uma dificuldade em planejar os movimentos para falar. A capacidade de entender o que é dito ou lido costuma ser relativamente preservada.

Pesquisas ativas
9 ensaios
20 total registrados no ClinicalTrials.gov
Publicações científicas
178 artigos
Último publicado: 2026 Mar 9
Em pesquisa
1 molécula
VERDIPERSTAT

O que está sendo pesquisado

1 molécula em estudo — nenhuma com registro para esta doença
Ver detalhes e fases →
VERDIPERSTAT
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
2.5
Europe
Início
Adult
🏥
SUS: Cobertura mínimaScore: 15%
2 procedimentos SIGTAPCID-10: G31.0
🇧🇷Dados SUS / DATASUS
EXAMES E PROCEDIMENTOS RELACIONADOS (2)
•
Sequenciamento completo do exoma (WES)
•
Atendimento em reabilitação — doenças raras
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Entender a doença

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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
19 sintomas
👁️
Olhos
1 sintomas
🧬
Pele e cabelo
1 sintomas
🫘
Rins
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 29 sintomas em outras categorias

Características mais comuns

90%prev.
Atrofia cortical temporal
Muito frequente (99-80%)
90%prev.
Prega cutânea nucal espessada
Muito frequente (99-80%)
90%prev.
Deterioração mental
Muito frequente (99-80%)
90%prev.
Transtorno de fala específico da gramática
Muito frequente (99-80%)
90%prev.
Afasia
Muito frequente (99-80%)
90%prev.
Demência frontotemporal
Muito frequente (99-80%)
52sintomas
Muito frequente (9)
Frequente (7)
Ocasional (12)
Muito raro (4)
Sem dados (20)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 52 características clínicas mais associadas, ordenadas por frequência.

Atrofia cortical temporalTemporal cortical atrophy
Muito frequente (99-80%)90%
Prega cutânea nucal espessadaThickened nuchal skin fold
Muito frequente (99-80%)90%
Deterioração mentalMental deterioration
Muito frequente (99-80%)90%
Transtorno de fala específico da gramáticaGrammar-specific speech disorder
Muito frequente (99-80%)90%
AfasiaAphasia
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico178PubMed
Últimos 10 anos62publicações
Pico20179 papers
Linha do tempo
2026Hoje · 2026🧪 2007Primeiro ensaio clínico📈 2017Ano 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

8 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial, Not applicable.

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
MAPTMicrotubule-associated protein tauMajor susceptibility factor 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
C9ORF72Guanine nucleotide exchange factor C9orf72Major susceptibility factor inTolerante
MECANISMO DE DOENÇA

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia 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 is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.

HGNC:28337UniProt:Q96LT7
TREM2Triggering receptor expressed on myeloid cells 2Major susceptibility factor 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
CHMP2BCharged multivesicular body protein 2bMajor susceptibility factor 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
VCPTransitional endoplasmic reticulum ATPaseMajor susceptibility factor 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
TMEM106BTransmembrane protein 106BMajor susceptibility factor 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
GRNProgranulinMajor susceptibility factor 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

Medicamentos e terapias

VERDIPERSTATPhase 1

Mecanismo: Myeloperoxidase inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

433 variantes patogênicas registradas no ClinVar.

🧬 PSEN1: NM_000021.4(PSEN1):c.1164C>G (p.Phe388Leu) ()
🧬 PSEN1: NM_000021.4(PSEN1):c.263C>A (p.Pro88His) ()
🧬 PSEN1: NM_000021.4(PSEN1):c.314T>C (p.Phe105Ser) ()
🧬 PSEN1: NM_000021.4(PSEN1):c.564dup (p.Tyr189fs) ()
🧬 PSEN1: NM_000021.4(PSEN1):c.1130-311G>T ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1 variantes classificadas pelo ClinVar.

1
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
TBK1: NM_013254.4(TBK1):c.2107G>T (p.Glu703Ter) [Likely pathogenic]

Vias biológicas (Reactome)

51 vias biológicas associadas aos genes desta condição.

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 Neutrophil degranulation 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 Caspase-mediated cleavage of cytoskeletal proteins Activation of AMPK downstream of NMDARs PKR-mediated signaling Neurodegenerative Diseases Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell DAP12 interactions DAP12 signaling Other semaphorin interactions 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 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

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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.
✓Aprovado1
2Fase 21
1Fase 16
·Pré-clínico13
Medicamentos catalogadosEnsaios clínicos· 1 medicamento · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Afasia, progressiva primária, tipo não-fluente

🗺️

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 3 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

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

Outros ensaios clínicos

20 ensaios clínicos encontrados, 9 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
62 papers (10 anos)
#1

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

Brain : a journal of neurology2026 Mar 09

Behavioural rigidity, the tendency to persist with inflexible patterns of thoughts or actions, is increasingly recognised as a transdiagnostic symptom across psychiatric, neurodevelopmental, and neurodegenerative disorders. Empirical studies exploring the prevalence and underlying neural mechanisms of behavioural rigidity in dementia, however, are lacking. This cross-sectional study sought to delineate the structural and functional neural correlates of behavioural rigidity using a transdiagnostic approach looking across the frontotemporal lobar degeneration (FTLD) spectrum and Alzheimer's disease. A total of 204 participants were recruited, including 110 frontotemporal dementia (FTD), 53 Alzheimer's disease (AD), and 41 healthy older control participants. Within the FTD group, 66 cases were diagnosed with clinically probable behavioural variant FTD (bvFTD), 26 presented with semantic dementia (SD), and 18 cases had progressive non-fluent aphasia (PNFA). Behavioural rigidity was assessed using the Stereotypical and Motor Behaviour subscale of the Cambridge Behavioural Inventory-Revised. Voxel-based morphometry (VBM) was performed to identify grey matter regions associated with behavioural rigidity transdiagnostically, the results of which informed subsequent seed-based voxel-wise functional connectivity analyses. All imaging analyses were adjusted for relevant demographic and technical covariates. Statistical thresholds were set at voxel-level p < 0.001 (uncorrected) and cluster-level p < 0.05 (FDR-corrected). Our main finding was that behavioural rigidity is pervasive across dementia subtypes, ranging from most pronounced in bvFTD to milder/relatively absent in PNFA, relative to Controls. Whole-brain VBM across the entire patient sample revealed a significant negative association between behavioural rigidity and grey matter intensity exclusively in the bilateral nucleus accumbens. Using the bilateral nucleus accumbens as seeds, resting-state functional connectivity analysis showed that higher levels of behavioural rigidity were associated with stronger connectivity between the left nucleus accumbens and the left supplementary motor area, paracentral lobule, and precuneus. This is the first study, to our knowledge, to examine the neural substrates of behavioural rigidity across FTLD syndromes transdiagnostically using structural and functional neuroimaging approaches. Our findings reveal a gradation of rigid and repetitive behaviours, most apparent in bvFTD, which in turn reflects pathological disruption of the nucleus accumbens. Taken together, our findings highlight the need to consider repetitive and rigid behaviours as a transdiagnostic feature in neurodegenerative disorders, and one which indexes underlying nucleus accumbens pathology. More broadly, this study underscores the importance of screening for rigid and repetitive behaviours in the clinic and identifies the nucleus accumbens as a promising neural target to ameliorate these symptoms.

#2

Connectome-based markers predict the sub-types of frontotemporal dementia.

Molecular psychiatry2026 Mar

Frontotemporal dementia (FTD) presents a complex spectrum of neurodegenerative disorders, encompassing distinct subtypes with varied clinical manifestations. This study investigates alterations in brain module organization associated with FTD subtypes using connectome analysis, aiming to identify potential biomarkers and enhance subtype prediction. Resting-state functional magnetic resonance imaging data were obtained from 41 individuals with behavioral variant frontotemporal dementia (BV-FTD), 32 with semantic variant frontotemporal dementia (SV-FTD), 28 with progressive non-fluent aphasia frontotemporal dementia (PNFA-FTD), and 94 healthy controls. Individual functional brain networks were constructed at the voxel level and binarized based on density thresholds. Modular segregation index (MSI) and participation coefficient (PC) were calculated to assess module integrity and identify regions with altered nodal properties. The relationship between modular measures and clinical scores was examined, and machine learning models were developed for subtype prediction. Both BV-FTD and SV-FTD groups exhibited decreased MSI in the subcortical module (SUB), default mode network (DMN), and ventral attention network (VAN) compared to healthy controls. Additionally, BV-FTD specifically displayed disrupted frontoparietal network (FPN) integrity compared to other FTD subtypes and controls. All FTD subtypes showed increased PC values in the insular region and reduced connections between the insular and VAN/FPN compared to controls. Moreover, significant associations between specific network alterations and clinical variables were observed. Machine learning models utilizing these matrices achieved high performance in differentiating FTD subtypes. This pilot study reveals diverse brain module organization across FTD subtypes, shedding light on both shared and distinct neurobiological underpinnings of the disorder.

#3

Unspoken art: progressive non-fluent aphasia in a painter.

Practical neurology2025 Oct 08
#4

[Classification and Clinical Characteristics of Dementia].

No shinkei geka. Neurological surgery2025 Sep

Community-based surveys conducted in Japan investigating the prevalence of dementia and its underlying causes revealed that dementia of Alzheimer's type (DAT) is the most common, followed by vascular dementia (VaD), dementia with Lewy bodies (DLB), mixed dementia, and other conditions including frontotemporal lobar degeneration (FTLD). Accurate differential diagnosis of these disorders requires clarification of their clinical characteristics. The initial symptoms of DAT typically include recent memory loss, episodic memory impairment, and temporal disorientation. Behavioral and psychological symptoms often observed in DAT include delusions of theft, "saving appearance" responses, and head-turning signs. Vascular dementia develops in association with cerebrovascular disease and frequently exhibits a stepwise progression. DLB is characterized by core clinical features such as cognitive fluctuations, visual hallucinations, parkinsonism, and REM sleep behavior disorder. Diagnostic tools such as 123Iodine-metaiodobenzylguanidine (MIBG) myocardial scintigraphy and dopamine transporter (DAT) imaging may aid in diagnosis. In Parkinson's disease with dementia (PDD), cognitive impairment appears more than one year after the onset of parkinsonism. FTLD involves degeneration of the frontal and temporal lobes, leading to prominent changes in personality, behavior, and language function. Several subtypes of FTLD exist depending on the affected brain region, including the behavioral variant of frontotemporal dementia, semantic dementia, and progressive non-fluent aphasia. Idiopathic normal-pressure hydrocephalus (iNPH) is characterized by gait disturbance, urinary incontinence, and dementia, resulting from an abnormal accumulation of cerebrospinal fluid. Pathologically confirmed cases of DLB and progressive supranuclear palsy (PSP) may occasionally present with symptoms resembling iNPH.

#5

A Bayesian analysis of diagnostic timelines across Alzheimer's disease, frontotemporal dementia, and other neurodegenerative conditions.

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

Timely diagnosis is crucial for managing neurodegenerative conditions. This study investigated whether time from symptom onset to diagnosis differs by clinical syndrome and sex. This retrospective, cross-sectional study included 591 participants with Alzheimer's disease (AD), frontotemporal dementia (FTD) subtypes (behavioral variant FTD [bvFTD], semantic dementia [SD], and progressive non-fluent aphasia), logopenic progressive aphasia (LPA), and syndromes associated with movement disorders (corticobasal syndrome, FTD with motor neuron disease [FTD-MND], and progressive supranuclear palsy). Bayesian regression models were used to compute diagnostic timelines. Compared to AD (3.35 years; 95% credible interval [CrI]: 3.03-3.72), SD and bvFTD had additional delays of 9.7 (95% CrI: 1.96-20.64) and 14.82 months (95% CrI: 6.94-25.42), respectively, while FTD-MND was shorter by 11.62 months (95% CrI: -15.7 to -4.68). Men with bvFTD had 23.64 month longer delays than women (95% CrI: 10.35-44.33). Diagnostic delays may reflect syndrome-specific clinical features, diagnostic complexity, and sociocultural factors. Findings highlight the need for improved diagnostic pathways and pre-clinical biomarkers to facilitate earlier identification. Bayesian analyses revealed that diagnostic delays differ by syndrome and sex.Alzheimer's disease (AD) was diagnosed on average 3.35 years after symptom onset.Diagnoses were delayed in semantic and behavioral variant frontotemporal dementia (bvFTD) compared to AD.Men with bvFTD had longer delays than women.Findings support need for improved diagnostic pathways and pre-clinical biomarkers.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC29 artigos no totalmostrando 62

2026

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

Brain : a journal of neurology
2025

Unspoken art: progressive non-fluent aphasia in a painter.

Practical neurology
2026

Connectome-based markers predict the sub-types of frontotemporal dementia.

Molecular psychiatry
2025

[Classification and Clinical Characteristics of Dementia].

No shinkei geka. Neurological surgery
2025

A Bayesian analysis of diagnostic timelines across Alzheimer's disease, frontotemporal dementia, and other neurodegenerative conditions.

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

Anatomy-Guided Microsurgical Resection of a Dominant Frontal Lobe Tumor Without Intraoperative Adjuncts: A Case Report from a Resource-Limited Context.

Diagnostics (Basel, Switzerland)
2025

Case report: Behavioral variant FTD confounding a language variant FTD in a case of PSP-CBS.

Frontiers in dementia
2024

Clinical and cortical trajectories in non-fluent primary progressive aphasia and Alzheimer's disease: A role for emotion processing.

Brain research
2024

Error profiles of facial emotion recognition in frontotemporal dementia and Alzheimer's disease.

International psychogeriatrics
2023

Analysis of positron emission tomography hypometabolic patterns and neuropsychiatric symptoms in patients with dementia syndromes.

CNS neuroscience &amp; therapeutics
2023

Anatomical MRI staging of frontotemporal dementia variants.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2022

Amyotrophic lateral sclerosis with primary progressive aphasia: a case report and literature review.

Neuro endocrinology letters
2023

Shouting from far away: three poems about living with speechlessness.

Practical neurology
2023

[A case of non-fluent/agrammatic variant of primary progressive aphasia with logoclonia].

Rinsho shinkeigaku = Clinical neurology
2022

A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes.

Genes
2022

Remote versus face-to-face neuropsychological testing for dementia research: a comparative study in people with Alzheimer's disease, frontotemporal dementia and healthy older individuals.

BMJ open
2022

Primary progressive aphasia and motor neuron disease: A review.

Frontiers in aging neuroscience
2022

Olfactory Bulb Integrity in Frontotemporal Dementia and Alzheimer's Disease.

Journal of Alzheimer's disease : JAD
2022

Anosognosia in Dementia: Evaluation of Perfusion Correlates Using 99mTc-HMPAO SPECT and Automated Brodmann Areas Analysis.

Diagnostics (Basel, Switzerland)
2022

Biological basis and psychiatric symptoms in frontotemporal dementia.

Psychiatry and clinical neurosciences
2021

Cognitive and Neural Mechanisms of Social Communication Dysfunction in Primary Progressive Aphasia.

Brain sciences
2021

Characteristics of behavioral symptoms in right-sided predominant semantic dementia and their impact on caregiver burden: a cross-sectional study.

Alzheimer's research &amp; therapy
2022

Semantic memory impairment in dementia: A cross-cultural adaptation study.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2021

Uncovering the prevalence and neural substrates of anhedonia in frontotemporal dementia.

Brain : a journal of neurology
2021

Case of early-onset Alzheimer's disease with atypical manifestation.

General psychiatry
2020

Social Cognition Deficits Are Pervasive across Both Classical and Overlap Frontotemporal Dementia Syndromes.

Dementia and geriatric cognitive disorders extra
2021

Examining prefrontal contributions to past- and future-oriented memory disturbances in daily life in dementia.

Cortex; a journal devoted to the study of the nervous system and behavior
2020

Classification of general and personal semantic details in the Autobiographical Interview.

Neuropsychologia
2019

[Amyotrophic Lateral Sclerosis and Frontotemporal Dementia].

Brain and nerve = Shinkei kenkyu no shinpo
2019

Sustained attention failures on a 3-min reaction time task is a sensitive marker of dementia.

Journal of neurology
2019

Clinical and neuroimaging investigations of language disturbance in frontotemporal dementia-motor neuron disease patients.

Journal of neurology
2019

Network localization of heterogeneous neuroimaging findings.

Brain : a journal of neurology
2019

A meta-analysis of neuropsychological, social cognitive, and olfactory functioning in the behavioral and language variants of frontotemporal dementia.

Psychological medicine
2019

Remarkable behavioural signs and progressive non-fluent aphasia in a patient with adult-onset leucoencephalopathy with axonal spheroids and pigmented glia.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society
2018

Role of Positron Emission Tomography as a Biologic Marker in the Diagnosis of Primary Progressive Aphasia: Two Case Reports.

Nuclear medicine and molecular imaging
2019

A case of progressive non-fluent aphasia as onset of amyotrophic lateral sclerosis with frontotemporal dementia.

The International journal of neuroscience
2018

Pathogenesis of Frontotemporal Lobar Degeneration: Insights From Loss of Function Theory and Early Involvement of the Caudate Nucleus.

Frontiers in neuroscience
2018

Retained capacity for perceptual learning of degraded speech in primary progressive aphasia and Alzheimer's disease.

Alzheimer's research &amp; therapy
2018

CSF Biomarkers of Neurodegeneration in Progressive Non-fluent Aphasia and Other Forms of Frontotemporal Dementia: Clues for Pathomechanisms?

Frontiers in neurology
2018

[Neuropathologic Subtypes of Frontotemporal Lobar Degeneration].

Brain and nerve = Shinkei kenkyu no shinpo
2018

Cerebrospinal fluid in the differential diagnosis of Alzheimer's disease: clinical utility of an extended panel of biomarkers in a specialist cognitive clinic.

Alzheimer's research &amp; therapy
2018

Vestibular symptoms as the presenting feature of progressive supranuclear palsy.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2018

Aphasia in Progressive Supranuclear Palsy: As Severe as Progressive Non-Fluent Aphasia.

Journal of Alzheimer's disease : JAD
2018

Music models aberrant rule decoding and reward valuation in dementia.

Social cognitive and affective neuroscience
2017

Behavioural and neuroanatomical correlates of auditory speech analysis in primary progressive aphasias.

Alzheimer's research &amp; therapy
2017

Semantic dementia, progressive non-fluent aphasia and their association with amyotrophic lateral sclerosis.

Journal of neurology, neurosurgery, and psychiatry
2017

The midbrain-to-pons ratio distinguishes progressive supranuclear palsy from non-fluent primary progressive aphasias.

European journal of neurology
2017

A case of TREM2 mutation presenting with features of progressive non-fluent aphasia and without bone involvement.

The Australian and New Zealand journal of psychiatry
2017

Sporadic Creutzfeldt-Jakob disease presenting with isolated progressive non-fluent aphasia in a young woman.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2017

Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia.

Brain : a journal of neurology
2017

Predicting Development of Amyotrophic Lateral Sclerosis in Frontotemporal Dementia.

Journal of Alzheimer's disease : JAD
2017

Behavioural and neuropsychiatric disturbance in three clinical subtypes of frontotemporal dementia: A Clinical Research Center for Dementia of South Korea-FTD Study.

Australasian journal on ageing
2017

Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype.

Brain pathology (Zurich, Switzerland)
2016

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.

Prion
2016

Core auditory processing deficits in primary progressive aphasia.

Brain : a journal of neurology
2016

Survival in Frontotemporal Dementia Phenotypes: A Meta-Analysis.

Dementia and geriatric cognitive disorders
2015

Pain and temperature processing in dementia: a clinical and neuroanatomical analysis.

Brain : a journal of neurology
2015

The frontal assessment battery is not useful to discriminate progressive supranuclear palsy from frontotemporal dementias.

Parkinsonism &amp; related disorders
2015

Writing in Richardson variant of progressive supranuclear palsy in comparison to progressive non-fluent aphasia.

Neurologia i neurochirurgia polska
2015

Atypical multiple system atrophy is a new subtype of frontotemporal lobar degeneration: frontotemporal lobar degeneration associated with α-synuclein.

Acta neuropathologica
2015

[Current concepts regarding cortical dementia].

Brain and nerve = Shinkei kenkyu no shinpo
2015

Clinical and Neuropsychological Comparisons of Early-Onset Versus Late-Onset Frontotemporal Dementia: A CREDOS-FTD Study.

Journal of Alzheimer's disease : JAD

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Afasia, progressiva primária, tipo não-fluente.

É de uma associação que acompanha esta doença? Fale com a gente →

Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Afasia, progressiva primária, tipo não-fluente e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
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 não há cura descrita para a afasia progressiva não fluente. Os cuidados concentram-se em estratégias de reabilitação fonoaudiológica e acompanhamento multiprofissional para mitigar as dificuldades de comunicação.

Referências

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

5 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. ORPHA:100070
    Orphanet
  2. GARD:10793
    GARD (NIH)
  3. Q18583
    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.). Afasia, progressiva primária, tipo não-fluente. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/afasia-progressiva-primaria-tipo-nao-fluente

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

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Afasia, progressiva primária, tipo não-fluente

ORPHA:100070 · MONDO:0015059
🇧🇷 Brasil SUS
SIGTAP
2 procedimentos
Geral
Prevalência
1-9 / 100 000
Herança
Multigenic/multifactorial, Not applicable
CID-10
G31.0 · Atrofia cerebral circunscrita
CID-11
Ensaios
9 ativos
Medicamentos
1 registrados
Início
Adult
Prevalência
2.5 (Europe)
MedGen
UMLS
C0751706
EuropePMC
Wikidata
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
Rara