Raras
Buscar doenças, sintomas, genes...
Afasia, progressiva primária, tipo fluente
ORPHA:100069CID-10 · G31.0CID-11 · 6D83OMIM 600274DOENÇA RARA

A demência semântica (DS) é uma forma de demência frontotemporal (DFT), caracterizada pela perda progressiva, amodal e profunda do conhecimento semântico (combinação de agnosia visual associativa, anomia, dislexia superficial ou disgrafia e compreensão perturbada do significado das palavras) e anormalidades comportamentais, atribuíveis à degeneração dos lobos temporais anteriores.

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Introdução

O que você precisa saber de cara

📋

A demência semântica (DS) é uma forma de demência frontotemporal (DFT), caracterizada pela perda progressiva, amodal e profunda do conhecimento semântico (combinação de agnosia visual associativa, anomia, dislexia superficial ou disgrafia e compreensão perturbada do significado das palavras) e anormalidades comportamentais, atribuíveis à degeneração dos lobos temporais anteriores.

Pesquisas ativas
3 ensaios
419 total registrados no ClinicalTrials.gov
Publicações científicas
1.274 artigos
Último publicado: 2026 Mar 30
Medicamentos
1 registrados
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CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
49
pacientes catalogados
Início
Adult
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G31.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
7 sintomas
👁️
Olhos
1 sintomas
🫘
Rins
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 19 sintomas em outras categorias

Características mais comuns

90%prev.
Anomia
Muito frequente (99-80%)
90%prev.
Atrofia cerebral
Muito frequente (99-80%)
90%prev.
Afasia
Muito frequente (99-80%)
90%prev.
Agnosia visual
Muito frequente (99-80%)
90%prev.
HP:0003596
Frequência: 9/10
80%prev.
Esclerose lateral amiotrófica
Frequência: 8/10
29sintomas
Muito frequente (6)
Frequente (7)
Ocasional (1)
Sem dados (15)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 características clínicas mais associadas, ordenadas por frequência.

Anomia
Muito frequente (99-80%)90%
Atrofia cerebralBrain atrophy
Muito frequente (99-80%)90%
AfasiaAphasia
Muito frequente (99-80%)90%
Agnosia visualVisual agnosia
Muito frequente (99-80%)90%
HP:0003596
Frequência: 9/1090%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.274PubMed
Últimos 10 anos200publicações
Pico202544 papers
Linha do tempo
2026Hoje · 2026🧪 1991Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

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

CHMP2BCharged multivesicular body protein 2bMajor susceptibility factor inTolerante
FUNÇÃO

Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The M

LOCALIZAÇÃO

Cytoplasm, cytosolLate endosome membrane

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
MAPTMicrotubule-associated protein tauMajor susceptibility factor inTolerante
FUNÇÃO

Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity (PubMed:21985311). The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both (PubMed:21985311, PubMed:32961270). Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isofo

LOCALIZAÇÃO

Cytoplasm, cytosolCell membraneCytoplasm, cytoskeletonCell projection, axonCell projection, dendriteSecreted

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
PSEN1Presenilin-1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10206644, PubMed:10545183, PubMed:10593990, PubMed:10811883, PubMed:10899933, PubMed:12679784, PubMed:12740439, PubMed:15274632, PubMed:20460383, PubMed:25043039, PubMed:26280335, PubMed:28269784, PubMed:30598546, PubMed:30630874). Requires the presence of the other members of the

LOCALIZAÇÃO

Endoplasmic reticulumEndoplasmic reticulum membraneGolgi apparatus membraneCytoplasmic granuleCell membraneCell projection, growth coneEarly endosomeEarly endosome membraneCell projection, neuron projectionCell projection, axonSynapse

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
GRNProgranulinMajor susceptibility factor inTolerante
FUNÇÃO

Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:12526812, PubMed:18378771, PubMed:28073925, PubMed:28453791, PubMed:28541286). Regulates protein trafficking to lysosomes, and also the activity of lysosomal enzymes (PubMed:28453791, PubMed:28541286). Also facilitates the acidification of lysosomes, causing degradation of mature CTSD by CTSB (PubMed:28073925). In addition, functions as

LOCALIZAÇÃO

SecretedLysosome

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
C9ORF72Guanine nucleotide exchange factor C9orf72Major susceptibility factor inTolerante
FUNÇÃO

Acts as a guanine-nucleotide releasing factor (GEF) for Rab GTPases by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:27103069, PubMed:27193190, PubMed:27617292, PubMed:28195531, PubMed:37821429). Acts as a GEF for RAB39A which enables HOPS-mediated autophagosome-lysosome membrane tethering and fusion in mammalian autophagy (PubMed:37821429). Component of the C9orf72-SMCR8 complex where both subunits display GEF activity and that regulates autophagy (PubMed:27103

LOCALIZAÇÃO

CytoplasmNucleusCytoplasm, P-bodyCytoplasm, Stress granuleEndosomeLysosomeCytoplasmic vesicle, autophagosomeAutolysosomeSecretedCell projection, axonCell projection, growth conePerikaryonCell projection, dendritePresynapsePostsynapseNucleus membrane

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
FUNÇÃO

Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding (PubMed:10799849). Acts as a receptor for amyloid-beta protein 42, a cleavage product of the amyloid-beta precursor protein APP, and mediates its uptake and degradation by microglia (PubMed:27477018, PubMed:29518356). Binding to amyloid-beta 42 mediates microglial activation, proliferation, migration, apoptosis and expression of pro-inflammatory cytokines, such as IL6R and CCL3, a

LOCALIZAÇÃO

Cell membraneSecreted

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
TMEM106BTransmembrane protein 106BMajor susceptibility factor inTolerante
FUNÇÃO

In neurons, involved in the transport of late endosomes/lysosomes (PubMed:25066864). May be involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking (PubMed:25066864). May act as a molecular brake for retrograde transport of late endosomes/lysosomes, possibly via its interaction with MAP6 (By similarity). In motoneurons, may mediate the axonal transport of lysosomes and axonal sorting at the initial segment (By similarity). It remains unclear whether TMEM106B affect

LOCALIZAÇÃO

Late endosome membraneLysosome membraneCell membrane

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

Medicamentos e terapias

VERDIPERSTATPhase 1

Mecanismo: Myeloperoxidase inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

164 variantes patogênicas registradas no ClinVar.

🧬 TMEM106B: GRCh37/hg19 7p22.3-14.3(chr7:158725-29918785)x3 ()
🧬 TMEM106B: GRCh37/hg19 7p21.3-15.3(chr7:12229502-21665553)x1 ()
🧬 TMEM106B: NM_001134232.2(TMEM106B):c.633-70G>T ()
🧬 TMEM106B: NM_001134232.2(TMEM106B):c.281+1G>A ()
🧬 TMEM106B: NM_001134232.2(TMEM106B):c.780G>T (p.Gln260His) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1 variantes classificadas pelo ClinVar.

1
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
MAPT: NM_001377265.1(MAPT):c.1568G>A (p.Arg523Gln) [Conflicting classifications of pathogenicity]

Diagnóstico

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
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1Fase 11
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 1 medicamento · 4 ensaios
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Onde tratar no SUS

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

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

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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

🟢 Recrutando agora

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

Outros ensaios clínicos

419 ensaios clínicos encontrados, 3 ativos.

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

Timeline de publicações
451 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

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

Brain : a journal of neurology2026 Mar 06

Semantic variant of primary progressive aphasia is a clinical subtype of frontotemporal lobar degeneration and is marked by TDP-43 subtype C pathology (FTLD-TDP C). It is a sporadic disease, yet has a strikingly homogeneous clinicopathological presentation, suggesting a common pathophysiology. The aim of this study was to discover dysregulated pathways in FTLD-TDP C through transcriptomics of the temporal cortex, its most affected region. Bulk RNA sequencing was conducted on temporal cortices of a post-mortem cohort of 18 FTLD-TDP C patients and 23 sex- and age-matched controls. Differential expression and functional analyses were run to detect differentially expressed genes with FDR<0.05 (DEG) and functionally annotate them. We assessed enrichment of TARDBP's protein interactors and RNA targets in DEG. Our findings were compared to other published RNA sequencing data of tauopathies (Alzheimer's dementia, progressive supranuclear palsy and FTLD with MAPT), FTLD-TDP (subtypes A&B) and available proteomics of this cohort. Furthermore, we performed weighted gene co-expression network analysis (WGCNA). We adjusted for differences in cell type composition between cases and controls using cell deconvolution, and removed genes dysregulated in temporal cortices of other datasets. In DEG of FTLD-TDP we focused on enrichment of synaptic processes using SynGO. We found upregulation of damage response, cell structure, RNA splicing processes and downregulation of synaptic processes in 6322 DEG and five disease-related WGCNA modules. TARDBP-related genes were enriched in DEG. Additionally, transmembrane transport across the neurovascular unit was dysregulated. After cell deconvolution and removal of common tau-genes, postsynaptic processes remained dysregulated, specifically gene ontology terms 'modulation of chemical synaptic transmission' and 'neurotransmitter receptor localisation to postsynaptic specialisation membrane'. We found eleven synaptic FTLD-TDP C-specific genes affected on both RNA- and protein-level in the temporal cortex, which were involved in synaptic adhesion (CADM1, NCAN), signal transmission (COMT, RGS144, SLC1A2, TUBB2B) and synaptic plasticity (BEGAIN, ITPKA, LRFN1, RAB3B, SYNPO). In conclusion, a wide range of processes were dysregulated on RNA-level in the temporal cortex of FTLD-TDP C, including commonly affected processes in neurodegeneration, such as structural cell alterations. Dysregulation of TARDBP-related genes and RNA splicing has also been observed in other TDP-43 proteinopathies. Importantly, we found that postsynaptic processes were downregulated in FTLD-TDP C, after removing tauopathy-related genes and after cell deconvolution. In particular, assembly of receptors at the postsynaptic membrane and synaptic signal transmission were affected, both on RNA and protein level. Future research on these pathways could elucidate distinct pathophysiological mechanisms and guide targeted clinical approaches.

#3

Fixel-based analysis reveals detailed white matter changes in semantic dementia.

Brain structure &amp; function2026 Jan 07

Accurately characterizing white matter (WM) microstructure is critical for understanding neurodegenerative diseases such as semantic dementia (SD). Regionally constrained techniques like tract-based spatial statistics (TBSS) rely on diffusion-tensor imaging (DTI) and assume a single fiber population per voxel, limiting their sensitivity to complex architecture. Fixel-based analysis (FBA) overcomes these constraints by resolving multiple fiber populations (fixels) within a single voxel, enabling more anatomically specific assessment of WM organization. Multi-shell diffusion MRI from 16 semantic-variant PPA (svPPA) and 15 semantic-behavioral fronto-temporal dementia (sbvFTD) cases—with imaging-confirmed left- and right-predominant temporal atrophy, respectively—and 44 neurologically healthy controls were analyzed using both TBSS-DTI and whole-brain FBA. Fiber-specific metrics of fiber density and cross-section were evaluated alongside conventional DTI measures. Both methods confirmed damage to the anterior temporal lobe (ATL) connected tracts—the uncinate fasciculus, inferior longitudinal fasciculus, inferior fronto-occipital fasciculus, and temporal projections of the arcuate fasciculus. FBA further detected involvement of juxtacortical and other pathways that were not captured by TBSS, including the tapetum and anterior commissure, projections to the parahippocampal gyrus and amygdala, and longer-range parietal connections. By capturing multiple fiber populations within each voxel, FBA provides greater anatomical precision and sensitivity to micro- and macro-structural changes than TBSS. This fiber-specific framework enables a more comprehensive mapping of WM degeneration in SD and helps delineate early alterations in commissural and mesial-temporal pathways that may underlie disease spread and cognitive decline. The online version contains supplementary material available at 10.1007/s00429-025-03064-7.

#4

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

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

Overlaps in symptom presentation limits the capacity to predict functional impairment and future care needs in younger-onset dementia syndromes. A general additive model (GAM) was applied to cross-sectional retrospective data from 375 participants with younger-onset dementia; 152 behavioral-variant frontotemporal dementia (bvFTD), 118 Alzheimer's disease (AD), 66 semantic dementia, and 39 progressive nonfluent aphasia (PNFA). This GAM aimed to explore the dynamic interrelationships between established measures of global cognition, apathy, and functional impairment. Our GAM significantly predicted functional impairment in all syndromes with a high explained variance (59.5%). Cognition and apathy emerged as significant predictors of functional impairment in each syndrome (p-values < .015). These relationships were consistently linear in AD, non-linear in SD, and mixed in bvFTD and PNFA (i.e., cognition linear and apathy non-linear). Our study shows the potential prognostic utility of GAMs for identifying syndrome-specific transition periods across group-level staging's of functional impairment. First study to apply a general additive model to functional impairment in younger-onset dementia.Studied 375 individuals with younger-onset Alzheimer's disease or frontotemporal dementia.Apathy and cognition were significant predictors of functional impairment in all syndromes.This modeling has significant implications for syndrome-specific prognosis and management.

#5

Atrophy progression in frontotemporal lobar degeneration-TDP-C with primary progressive aphasia.

Brain : a journal of neurology2025 Oct 01

Clinicopathologic correlations in neurodegenerative diseases have led to novel insights on the neurobiology of selective vulnerability and the anatomy of cognitive networks. The neuropathologic entity of frontotemporal lobar degeneration with abnormal precipitates of the transactive response DNA binding protein TDP-43 (FTLD-TDP) of type C (TDP-C) is one of the most distinctive examples. TDP-C invariably starts with neurodegeneration (atrophy) confined to the temporopolar regions (TPR). The process is usually asymmetric, causing behavioral abnormalities and associative agnosia when predominantly right-sided, semantic Primary Progressive Aphasia (PPA) when left-sided, and semantic dementia when bilateral. In this study, we investigated the relationship between atrophy progression and the progressive dissolution of word comprehension in TDP-C patients with asymmetric left TPR degeneration. For the sake of homogeneity, and in order to use a common yardstick of functional progression, we focused on patients with leftward asymmetry and initially isolated verbal impairment. Using data from 24 visits with structural MRI scans and specialized tests of naming, word definition, and word-to-picture matching, we stratified the anatomy of peak degeneration sites according to three increasingly more advanced stages of impaired noun representations. According to this pattern of progression, an initial stage of relatively isolated anomia is followed by additional intra-category blurring of word meaning and, at still more advanced stages, inter-category blurring. Voxel Based Morphometry (VBM) maps of gray matter volume were binarized to identify regions most frequently atrophied at each of these stages. Results illustrate that the progressive dissolution of word meaning is associated with caudal progression of atrophy from the left temporopolar cortex at initial stages to more posterior fusiform, lateral temporal and temporooccipital regions in later stages. The stratification of progressive atrophy by precisely characterized stages of word comprehension impairment, rather than by estimated time of symptom onset, offers a functional rather than just chronological anatomy of progression for TDP-C and a clearer view of the relationship between TPR components and the cognitive mapping of word representations.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC479 artigos no totalmostrando 195

2026

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

Brain : a journal of neurology
2026

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

Brain : a journal of neurology
2026

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

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

Fixel-based analysis reveals detailed white matter changes in semantic dementia.

Brain structure &amp; function
2025

[51-Year-old Patient With Word Finding Difficulties].

Praxis
2025

Sudoku Preoccupation in Semantic Dementia.

Internal medicine (Tokyo, Japan)
2025

Clinical Manifestations and Neural Basis of Semantic Dementia: Converging Evidences From Brain Imaging Studies.

Clinical interventions in aging
2025

[Classification and Clinical Characteristics of Dementia].

No shinkei geka. Neurological surgery
2025

Atrophy progression in frontotemporal lobar degeneration-TDP-C with primary progressive aphasia.

Brain : a journal of neurology
2025

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

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

The presymptomatic and early manifestations of semantic dementia.

Brain : a journal of neurology
2025

Cognitive and neuroanatomical assessment of alexia and agraphia in Japanese: implications for the European languages.

Frontiers in human neuroscience
2025

Effects of Cognitive Demand and Imaginability on Semantic Cognition in Patients with Primary Progressive Aphasia.

Current Alzheimer research
2025

A Case of Late-Onset Semantic Dementia With Right-Predominant Temporal Lobe Atrophy due to Primary Tauopathy.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society
2025

Understanding the mind-brain relationship through focal neurodegenerative pathology.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

The effect of congruency on visual exploration and episodic memory performance in Alzheimer's disease and semantic dementia.

Neuropsychologia
2025

Understanding Theory of Mind-pragmatics relationship through the spectrum of neurodegenerative diseases.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences
2025

Meaning for reading: the neurocognitive basis of semantic reading impairment after stroke.

Brain : a journal of neurology
2025

Proteomics of the temporal cortex in semantic dementia reveals brain-region specific molecular pathology and regulation of the TDP-43-ANXA11 interactome.

Acta neuropathologica communications
2025

VCP p.Arg191Gln mutation in a patient with semantic dementia: a case report.

Neurocase
2025

Left inferior temporal hemorrhage due to cerebral amyloid angiopathy mimicking semantic dementia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Survival rates in frontotemporal dementia and Alzheimer's disease.

Neurodegenerative disease management
2025

Validation of criteria for frontotemporal dementia with right anterior temporal lobe predominance.

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

Self- versus caregiver-reported apathy across neurological disorders.

Brain communications
2025

The neural basis of frontotemporal dementia (FTD): insights from ALE meta-analyses of four FTD subtypes encompassing 8,057 patients.

medRxiv : the preprint server for health sciences
2025

The role of disconnection mechanisms in category-specific semantic disorders for living beings. A critical review.

Cortex; a journal devoted to the study of the nervous system and behavior
2025

Lower water-soluble vitamins and higher homocysteine are associated with neurodegenerative diseases.

Scientific reports
2025

Defective Awareness of Person-Recognition Disorders Through Face, Voice and Name in Right and Left Variants of Semantic Dementia: A Pilot Study.

Brain sciences
2025

Nation-wide Japanese FTD consortium FTLD-J: Utility of case review meetings.

International psychogeriatrics
2025

Regional cerebral blood flow correlated with aphasia in dementia of the Alzheimer's type and frontotemporal lobar degeneration.

Acta neurobiologiae experimentalis
2025

Primary Progressive Aphasias: Diagnosis and Treatment.

Brain sciences
2025

Behavioural and cognitive profiles in frontotemporal dementia and Alzheimer's disease: a longitudinal study.

Journal of neurology
2025

The causal association between resting state intrinsic functional networks and neurodegeneration.

Brain communications
2025

Double dissociation between lexical decision and comprehension in a Japanese patient with semantic dementia: based on the characteristic processing of Kanji.

Neurocase
2025

Semantic and pre-semantic defects of person recognition in semantic dementia. A commentary to the Belliard & Merck's paper: "Is semantic dementia an outdated entity? ".

Cortex; a journal devoted to the study of the nervous system and behavior
2025

Behavioural changes in frontotemporal dementia and their cognitive and neuroanatomical correlates.

Brain : a journal of neurology
2025

Long-Term Multimodal Exercise Intervention for Patients with Frontotemporal Lobar Degeneration: Feasibility and Preliminary Outcomes.

Dementia and geriatric cognitive disorders extra
2025

Impaired semantic control in the logopenic variant of primary progressive aphasia.

Brain communications
2024

Semantic knowledge of social norms in frontotemporal dementia patients with either predominant frontal or temporal lobe atrophy.

Applied neuropsychology. Adult
2025

Linking structural and functional changes during healthy aging and semantic dementia using multilayer brain network analysis.

Cortex; a journal devoted to the study of the nervous system and behavior
2025

Semantic behavioral variant frontotemporal dementia and semantic dementia associated with TARDBP mutations.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2024

Longitudinal changes in functional capacity in frontotemporal dementia and Alzheimer's disease.

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

Resolving the problem of surface dyslexia in Italian through inflection of irregular verbs.

Journal of neuropsychology
2024

Social-semantic knowledge in frontotemporal dementia and after anterior temporal lobe resection.

Brain communications
2024

Perceptual and semantic deficits in face recognition in semantic dementia.

Neuropsychologia
2025

Frontotemporal Dementia Differential Diagnosis in Clinical Practice: A Single-Center Retrospective Review of Frontal Behavioral Referrals.

Neurology. Clinical practice
2024

Relationship between hearing impairment and dementia and cognitive function: a Mendelian randomization study.

Alzheimer's research &amp; therapy
2024

Is semantic dementia an outdated entity?

Cortex; a journal devoted to the study of the nervous system and behavior
2025

Drawing as a means to characterize memory and cognition.

Memory &amp; cognition
2024

Establishing and evaluating the gradient of item naming difficulty in post-stroke aphasia and semantic dementia.

Cortex; a journal devoted to the study of the nervous system and behavior
2024

The impact of bilateral versus unilateral anterior temporal lobe damage on face recognition, person knowledge and semantic memory.

Cerebral cortex (New York, N.Y. : 1991)
2024

Clinicopathologic and Neuroimaging Correlations of Nonverbal Oral Apraxia in Patients With Neurodegenerative Disease.

Neurology
2024

FDG-PET in the diagnosis of primary progressive aphasia: a systematic review.

Annals of nuclear medicine
2024

Dysphagia in primary progressive aphasia: Clinical predictors and neuroanatomical basis.

European journal of neurology
2024

Clinical recognition of frontotemporal dementia with right anterior temporal predominance: A multicenter retrospective cohort study.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2024

A Critical Review of Noninvasive Brain Stimulation Technologies in Alzheimer's Dementia and Primary Progressive Aphasia.

Journal of Alzheimer's disease : JAD
2024

Advances in semantic dementia: Neuropsychology, pathology & neuroimaging.

Ageing research reviews
2025

Drawing from name in semantic dementia reveals graded object knowledge representations in anterior temporal lobe.

Memory &amp; cognition
2024

Profiles of motivational impairment and their relationship to functional decline in frontotemporal dementia.

Journal of neurology
2024

Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant.

Neurocase
2024

Hemispheric asymmetries in hippocampal volume related to memory in left and right temporal variants of frontotemporal degeneration.

Frontiers in neurology
2024

Right versus left temporal lobe semiology in dementia: Lessons from two cases with focal frontotemporal dementia syndromes.

Journal of neuropsychology
2024

Reversal of the concreteness effect can be detected in the natural speech of older adults with amnestic, but not non-amnestic, mild cognitive impairment.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2024

Data-driven subtypes of mixed semantic-logopenic primary progressive aphasia: Linguistic features, biomarker profiles and brain metabolic patterns.

Journal of the neurological sciences
2024

Examining the propensity and nature of criminal risk behaviours in frontotemporal dementia syndromes and Alzheimer's disease.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2024

Volumetric analysis of hippocampal subregions and subfields in left and right semantic dementia.

Brain communications
2024

White matter network underlying semantic processing: evidence from stroke patients.

Brain communications
2024

(What) can patients with semantic dementia learn?

Neuropsychologia
2024

Prosopagnosia: face blindness and its association with neurological disorders.

Brain communications
2024

A neuroanatomical and cognitive model of impaired social behaviour in frontotemporal dementia.

Brain : a journal of neurology
2024

Longitudinal volumetric changes in amygdala subregions in frontotemporal dementia.

Journal of neurology
2024

Exploring graded profiles of hippocampal atrophy along the anterior-posterior axis in semantic dementia and Alzheimer's disease.

Neurobiology of aging
2023

Structural connectivity of cytoarchitectonically distinct human left temporal pole subregions: a diffusion MRI tractography study.

Frontiers in neuroanatomy
2023

Transcranial direct current stimulation in semantic variant of primary progressive aphasia: a state-of-the-art review.

Frontiers in human neuroscience
2023

Breakdown of category-specific word representations in a brain-constrained neurocomputational model of semantic dementia.

Scientific reports
2024

Establishing the link between motivational disturbances and behavioural rigidity in frontotemporal dementia.

European journal of neurology
2025

Semantic dementia in Arabic: An assessment of Arabic word reading within sentences.

Applied neuropsychology. Adult
2024

Primary progressive aphasia: six questions in search of an answer.

Journal of neurology
2023

Diminished baseline autonomic outflow in semantic dementia relates to left-lateralized insula atrophy.

NeuroImage. Clinical
2024

Behavioral Treatment for Speech and Language in Primary Progressive Aphasia and Primary Progressive Apraxia of Speech: A Systematic Review.

Neuropsychology review
2023

A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy.

Acta neuropathologica communications
2024

Symptom-led staging for semantic and non-fluent/agrammatic variants of primary progressive aphasia.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2023

Genetic and Neuroimaging Analysis of SIGMAR1 for Frontotemporal Dementia.

Journal of Alzheimer's disease : JAD
2023

Globular glial tauopathy presenting clinically as atypical parkinsonism with dementia: A clinicopathological case report.

Clinical parkinsonism &amp; related disorders
2023

Expressive Prosody in Patients With Focal Anterior Temporal Neurodegeneration.

Neurology
2023

Hemispheric contributions toward interoception and emotion recognition in left-vs right-semantic dementia.

Neuropsychologia
2023

Concrete and Abstract Concepts in Primary Progressive Aphasia and Alzheimer's Disease: A Scoping Review.

Brain sciences
2023

Functional and structural network changes related with cognition in semantic dementia longitudinally.

Human brain mapping
2023

Increased oligomeric TDP-43 in the plasma of Korean frontotemporal dementia patients with semantic dementia.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2023

Feasibility and Benefits of Intermittent Multiple tDCS Courses With Concomitant Language Training in Semantic Dementia: A Case Report.

Indian journal of psychological medicine
2023

Distinguishing Semantic Variant Primary Progressive Aphasia from Alzheimer's Disease.

Journal of Alzheimer's disease reports
2023

Word production and comprehension in frontotemporal degeneration: A neurocognitive computational Pickian account.

Cortex; a journal devoted to the study of the nervous system and behavior
2024

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

International psychogeriatrics
2023

Communication-related experiences of individuals in the early phase of semantic dementia and their families: an interview study.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society
2023

The architecture of abnormal reward behaviour in dementia: multimodal hedonic phenotypes and brain substrate.

Brain communications
2023

Semantic cognition in healthy ageing: Neural signatures of representation and control mechanisms in naming typical and atypical objects.

Neuropsychologia
2023

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

CNS neuroscience &amp; therapeutics
2023

The cognitive and behavioral correlates of functional status in patients with frontotemporal dementia: A pilot study.

Frontiers in human neuroscience
2023

Accounting for word production, comprehension, and repetition in semantic dementia, Alzheimer's dementia, and mild cognitive impairment.

Brain and language
2023

Neurofilament light oligomers in neurodegenerative diseases: quantification by homogeneous immunoassay in cerebrospinal fluid.

BMJ neurology open
2023

Cognitive interventions for memory and psychological well-being in aging and dementias.

Frontiers in psychology
2023

What semantic dementia tells us about the ability to infer others' communicative intentions.

The Behavioral and brain sciences
2023

Anatomical MRI staging of frontotemporal dementia variants.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2024

Semantic dementia: a complex and culturally influenced presentation.

BJPsych bulletin
2022

The problematic syndrome of right temporal lobe atrophy: Unweaving the phenotypic rainbow.

Frontiers in neurology
2023

Mapping behavioural, cognitive and affective transdiagnostic dimensions in frontotemporal dementia.

Brain communications
2023

More extensive hypometabolism and higher mortality risk in patients with right- than left-predominant neurodegeneration of the anterior temporal lobe.

Alzheimer's research &amp; therapy
2022

Meaningless imitation in neurodegenerative diseases: Effects of body part, bimanual imitation, asymmetry, and body midline crossing.

Cognitive neuropsychology
2022

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

Neuro endocrinology letters
2022

Proteomics of the dentate gyrus reveals semantic dementia specific molecular pathology.

Acta neuropathologica communications
2022

The Assessment of the Socioemotional Disorder in Neurodegenerative Diseases with the Revised Self-Monitoring Scale (RSMS).

Journal of clinical medicine
2023

Commentary on 'Somewhere out there in a place no one knows: Yoko Ogawa's The Memory Police and the literature of forgetting' by John Henning.

Medical humanities
2023

'Like going into a chocolate shop, blindfolded': What do people with primary progressive aphasia want from speech and language therapy?

International journal of language &amp; communication disorders
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
2023

Altered reward processing underpins emotional apathy in dementia.

Cognitive, affective &amp; behavioral neuroscience
2023

Clinicopathological diversity of semantic dementia: Comparisons of patients with early-onset versus late-onset, left-sided versus right-sided temporal atrophy, and TDP-type A versus type C pathology.

Neuropathology : official journal of the Japanese Society of Neuropathology
2023

Temporopolar regions of the human brain.

Brain : a journal of neurology
2023

Changing perspectives on frontotemporal dementia: A review.

Journal of neuropsychology
2023

Individual differences in theory of mind correlate with the occurrence of false memory: A study with the DRM task.

Quarterly journal of experimental psychology (2006)
2022

Damage to temporoparietal cortex is sufficient for impaired semantic control.

Cortex; a journal devoted to the study of the nervous system and behavior
2022

Primary progressive aphasia and motor neuron disease: A review.

Frontiers in aging neuroscience
2022

An examination of retrieval practice and production training in the treatment of lexical-semantic comprehension deficits in aphasia.

Neuropsychology
2022

Comparing Medial Temporal Atrophy Between Early-Onset Semantic Dementia and Early-Onset Alzheimer's Disease Using Voxel-Based Morphometry: A Multicenter MRI Study.

Current Alzheimer research
2022

Frontotemporal dementia: A unique window on the functional role of the temporal lobes.

Handbook of clinical neurology
2022

The neural correlates of abstract and concrete words.

Handbook of clinical neurology
2022

Music appreciation phenotypes in patients with frontotemporal dementia: A pilot study.

International journal of geriatric psychiatry
2022

Enhanced positive emotional reactivity in frontotemporal dementia reflects left-lateralized atrophy in the temporal and frontal lobes.

Cortex; a journal devoted to the study of the nervous system and behavior
2022

"Split-day syndrome", a patient with frontotemporal dementia who lives two days in the span of one: a case report and review of articles.

Neurocase
2022

Right Temporal Lobe Variant of Frontotemporal Dementia: Systematic Review.

Alzheimer disease and associated disorders
2022

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

Journal of Alzheimer's disease : JAD
2022

Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia.

Brain : a journal of neurology
2022

Plasma Oxytocin Is Not Associated with Social Cognition or Behavior in Frontotemporal Dementia and Alzheimer's Disease Syndromes.

Dementia and geriatric cognitive disorders
2022

Phonemic restoration in Alzheimer's disease and semantic dementia: a preliminary investigation.

Brain communications
2022

Characterizing Differences in Functional Connectivity Between Posterior Cortical Atrophy and Semantic Dementia by Seed-Based Approach.

Frontiers in aging neuroscience
2021

Physical understanding in neurodegenerative diseases.

Cognitive neuropsychology
2022

Neuropathological fingerprints of survival, atrophy and language in primary progressive aphasia.

Brain : a journal of neurology
2022

Dopamine Transporter Imaging for Frontotemporal Lobar Degeneration With Motor Neuron Disease.

Frontiers in neuroscience
2021

Speech and Language Abilities of Persons with Frontotemporal Dementia.

Psychiatria Danubina
2022

A presumptive association between obsessive compulsions and asymmetric temporal lobe atrophy: a case report.

Journal of medical case reports
2021

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

Brain sciences
2021

"Hard to Say, Hard to Understand, Hard to Live": Possible Associations between Neurologic Language Impairments and Suicide Risk.

Brain sciences
2021

Semantic Variant Primary Progressive Aphasia: Practical Recommendations for Treatment from 20 Years of Behavioural Research.

Brain sciences
2021

The Free Association Task: Proposal of a Clinical Tool for Detecting Differential Profiles of Semantic Impairment in Semantic Dementia and Alzheimer's Disease.

Medicina (Kaunas, Lithuania)
2021

Two Rare Variants in PLAU and BACE1 Genes-Do They Contribute to Semantic Dementia Clinical Phenotype?

Genes
2023

No negative impact of word retraining on vocabulary use or clarity of communication in semantic dementia.

Neuropsychological rehabilitation
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
2021

Impaired emotion perception and categorization in semantic aphasia.

Neuropsychologia
2021

Considering Hemispheric Specialization in Emotional Face Processing: An Eye Tracking Study in Left- and Right-Lateralised Semantic Dementia.

Brain sciences
2022

The Role of Oxytocin in Social Circuits and Social Behavior in Dementia.

Methods in molecular biology (Clifton, N.J.)
2021

Anhedonia in Semantic Dementia-Exploring Right Hemispheric Contributions to the Loss of Pleasure.

Brain sciences
2022

Supporting behaviour change in younger-onset dementia: mapping the needs of family carers in the community.

Aging &amp; mental health
2021

On-Reading (Chinese-Style Pronunciation) Predominance Over Kun-Reading (Native Japanese Pronunciation) in Japanese Semantic Dementia.

Frontiers in human neuroscience
2021

The role of semantic memory in prospective memory and episodic future thinking: new insights from a case of semantic dementia.

Memory (Hove, England)
2021

Content Word Production during Discourse in Aphasia: Deficits in Word Quantity, Not Lexical-Semantic Complexity.

Journal of cognitive neuroscience
2022

Examining the episodic-semantic interaction during future thinking - A reanalysis of external details.

Memory &amp; cognition
2021

Neuroimaging in Frontotemporal Dementia: Heterogeneity and Relationships with Underlying Neuropathology.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
2022

Episodic-semantic interactions in spontaneous thought.

Memory &amp; cognition
2021

Right temporal variant frontotemporal dementia is pathologically heterogeneous: a case-series and a systematic review.

Acta neuropathologica communications
2021

Putative Alcohol-Related Dementia as an Early Manifestation of Right Temporal Variant of Frontotemporal Dementia.

Journal of Alzheimer's disease : JAD
2021

History of Magnetic Resonance Imaging: A Trip Down Memory Lane.

Neuroscience
2021

Neural dynamics of semantic categorization in semantic variant of primary progressive aphasia.

eLife
2021

Different types of abstract concepts: evidence from two neurodegenerative patients.

Neurocase
2021

Emotional Comparison Between Semantic Dementia and Alzheimer's Disease.

Frontiers in psychiatry
2021

"More than words" - Longitudinal linguistic changes in the works of a writer diagnosed with semantic dementia.

Neurocase
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

Using concept typicality to explore semantic representation and control in healthy ageing.

Cognitive processing
2021

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

Brain : a journal of neurology
2021

Beyond language impairment: Profiles of apathy in primary progressive aphasia.

Cortex; a journal devoted to the study of the nervous system and behavior
2021

Neuroinflammation is highest in areas of disease progression in semantic dementia.

Brain : a journal of neurology
2021

Neurobehavioral Characteristics of FDG-PET Defined Right-Dominant Semantic Dementia: A Longitudinal Study.

Dementia and geriatric cognitive disorders
2021

Changes in local brain function in mild cognitive impairment due to semantic dementia.

CNS neuroscience &amp; therapeutics
2021

Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes.

Biological psychiatry
2020

Distinctive Oculomotor Behaviors in Alzheimer's Disease and Frontotemporal Dementia.

Frontiers in aging neuroscience
2021

Clinical features of behavioral symptoms in patients with semantic dementia: Does semantic dementia cause autistic traits?

PloS one
2021

Primary Progressive Aphasia: Toward a Pathophysiological Synthesis.

Current neurology and neuroscience reports
2021

Frontotemporal Dementia: A Window to Alexithymia.

The Journal of neuropsychiatry and clinical neurosciences
2021

"Semantic variant primary progressive aphasia" due to comorbidity of Lewy body disease and a previous cerebral venous infarction in the left anterior temporal lobe: A case report.

eNeurologicalSci
2020

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

Dementia and geriatric cognitive disorders extra
2020

Altered functional connectivity of cortical networks in semantic variant Primary Progressive Aphasia.

NeuroImage. Clinical
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
2021

Assessing natural metalinguistic skills in people with Alzheimer's disease and frontotemporal dementia.

Journal of communication disorders
2021

Errorless Learning Therapy in Semantic Variant of Primary Progressive Aphasia.

Journal of Alzheimer's disease : JAD
2021

Daily life activities in patients with Alzheimer's disease or semantic dementia: Multitasking assessment.

Neuropsychologia
2020

When affect overlaps with concept: emotion recognition in semantic variant of primary progressive aphasia.

Brain : a journal of neurology
2020

Somatic TARDBP variants as a cause of semantic dementia.

Brain : a journal of neurology
2020

Using a second-person approach to identify disease-specific profiles of social behavior in frontotemporal dementia and Alzheimer's disease.

Cortex; a journal devoted to the study of the nervous system and behavior
2021

Distinct performance profiles on the Brixton test in frontotemporal dementia.

Journal of neuropsychology
2020

Verbal Semantics and the Left Dorsolateral Anterior Temporal Lobe: A Longitudinal Case of Bilateral Temporal Degeneration.

Aphasiology
2020

The neurophysiological architecture of semantic dementia: spectral dynamic causal modelling of a neurodegenerative proteinopathy.

Scientific reports
2020

Graded, multidimensional intra- and intergroup variations in primary progressive aphasia and post-stroke aphasia.

Brain : a journal of neurology
2020

Regional and hemispheric susceptibility of the temporal lobe to FTLD-TDP type C pathology.

NeuroImage. Clinical
2020

Differential Atrophy in the Hippocampal Subfield Volumes in Four Types of Mild Dementia.

Frontiers in neuroscience
2020

Multilingualism and semantic dementia - A case report.

Asian journal of psychiatry
2020

Functional Connectivity Alterations of the Temporal Lobe and Hippocampus in Semantic Dementia and Alzheimer's Disease.

Journal of Alzheimer's disease : JAD
2020

PSP-FTD Complex: A Possible Variant of PSP.

American journal of Alzheimer's disease and other dementias
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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Behavioural rigidity as a transdiagnostic marker of nucleus accumbens dysfunction in dementia.
    Brain : a journal of neurology· 2026· PMID 41800890mais citado
  2. Transcriptomic signature of frontotemporal lobar degeneration with TDP-43 type C pathology.
    Brain : a journal of neurology· 2026· PMID 41789476mais citado
  3. Fixel-based analysis reveals detailed white matter changes in semantic dementia.
    Brain structure &amp; function· 2026· PMID 41498944mais citado
  4. Modeling contributions of cognition and apathy to functional impairment in younger-onset dementia.
    Alzheimer's &amp; dementia (Amsterdam, Netherlands)· 2026· PMID 41573421mais citado
  5. Atrophy progression in frontotemporal lobar degeneration-TDP-C with primary progressive aphasia.
    Brain : a journal of neurology· 2025· PMID 41032666mais citado
  6. Eating behaviour profiles across the frontotemporal dementia spectrum.
    J Neuropsychol· 2026· PMID 41910205recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:100069(Orphanet)
  2. OMIM OMIM:600274(OMIM)
  3. MONDO:0010857(MONDO)
  4. GARD:10792(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q18587(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Afasia, progressiva primária, tipo fluente
Compêndio · Raras BR

Afasia, progressiva primária, tipo fluente

ORPHA:100069 · MONDO:0010857
Prevalência
<1 / 1 000 000
Casos
49 casos conhecidos
Herança
Multigenic/multifactorial, Not applicable
CID-10
G31.0 · Atrofia cerebral circunscrita
CID-11
Ensaios
3 ativos
Medicamentos
1 registrados
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0338451
EuropePMC
Wikidata
Papers 10a
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