MCID: PRG033
MIFTS: 49

Progressive Non-Fluent Aphasia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Non-Fluent Aphasia

MalaCards integrated aliases for Progressive Non-Fluent Aphasia:

Name: Progressive Non-Fluent Aphasia 53 59
Non-Fluent Variant Ppa 53 59
Agramatic Variant of Primary Progressive Aphasia 59
Non-Fluent Primary Progressive Aphasia 53
Primary Progressive Nonfluent Aphasia 73
Progressive Nonfluent Aphasia 55
Agramatic Variant of Ppa 59

Characteristics:

Orphanet epidemiological data:

59
progressive non-fluent aphasia
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA100070
ICD10 via Orphanet 34 G31.0
MESH via Orphanet 45 D057178
UMLS via Orphanet 74 C0751706
UMLS 73 C0751706

Summaries for Progressive Non-Fluent Aphasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100070Disease definitionProgressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.Visit the Orphanet disease page for more resources.

MalaCards based summary : Progressive Non-Fluent Aphasia, also known as non-fluent variant ppa, is related to frontotemporal lobar degeneration with tdp43 inclusions, grn-related and pick disease of brain. An important gene associated with Progressive Non-Fluent Aphasia is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Neuroscience and Cytoskeletal Signaling. The drugs Aluminum hydroxide and Corticosterone have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are depressivity and dysphasia

Wikipedia : 76 Progressive nonfluent aphasia (PNFA) is one of three clinical syndromes associated with frontotemporal... more...

Related Diseases for Progressive Non-Fluent Aphasia

Diseases related to Progressive Non-Fluent Aphasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 32.3 GRN MAPT
2 pick disease of brain 32.0 GRN MAPT PSEN1
3 aphasia 30.6 C9orf72 CHMP2B GRN MAPT PSEN1
4 apraxia 30.3 C9orf72 GRN MAPT PSEN1
5 supranuclear palsy, progressive, 1 30.3 C9orf72 GRN MAPT PSEN1
6 mutism 30.1 CHMP2B GRN
7 dementia 29.3 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
8 semantic dementia 29.2 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
9 frontotemporal dementia 29.2 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
10 amyotrophic lateral sclerosis 1 28.9 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
11 behavioral variant of frontotemporal dementia 28.7 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
12 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 12.6
13 frontotemporal dementia with parkinsonism-17 10.5
14 lateral sclerosis 10.4
15 corticobasal degeneration 10.4
16 alzheimer disease 10.2
17 creutzfeldt-jakob disease 10.2
18 cognitive function 1, social 10.2
19 intermittent claudication 10.2
20 logopenic progressive aphasia 10.2
21 phonagnosia 10.2 GRN PSEN1
22 associative agnosia 10.2 GRN PSEN1
23 writing disorder 10.1 GRN PSEN1
24 prosopagnosia 10.1 GRN PSEN1
25 gait apraxia 10.1 GRN PSEN1
26 ideomotor apraxia 10.1 GRN MAPT
27 visual agnosia 10.1 GRN PSEN1
28 familial idiopathic basal ganglia calcification 10.1 MAPT PSEN1
29 kohlschutter-tonz syndrome 10.1 MAPT PSEN1
30 kluver-bucy syndrome 10.1 MAPT PSEN1
31 alzheimer disease 2 10.1 MAPT PSEN1
32 perry syndrome 10.1 C9orf72 GRN
33 early-onset, autosomal dominant alzheimer disease 10.0 PSEN1 TREM2
34 cerebral amyloid angiopathy, cst3-related 10.0 MAPT PSEN1
35 amyotrophic lateral sclerosis 21 10.0 C9orf72 VCP
36 echolalia 10.0 GRN MAPT PSEN1
37 vascular dementia 10.0 MAPT PSEN1
38 agraphia 10.0 GRN MAPT PSEN1
39 specific developmental disorder 10.0 GRN PSEN1
40 dementia, lewy body 10.0 GRN MAPT PSEN1
41 nervous system disease 10.0 C9orf72 MAPT PSEN1
42 inclusion body myositis 10.0 MAPT VCP
43 speech and communication disorders 9.8 C9orf72 GRN MAPT PSEN1
44 disease of mental health 9.8 C9orf72 GRN MAPT PSEN1
45 motor neuron disease 9.8 C9orf72 GRN MAPT VCP
46 synucleinopathy 9.7 CHMP2B MAPT
47 nominal aphasia 9.7 CHMP2B GRN MAPT PSEN1
48 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.2 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B

Graphical network of the top 20 diseases related to Progressive Non-Fluent Aphasia:



Diseases related to Progressive Non-Fluent Aphasia

Symptoms & Phenotypes for Progressive Non-Fluent Aphasia

Human phenotypes related to Progressive Non-Fluent Aphasia:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
3 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
4 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
5 memory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002354
6 apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0002186
7 dysgraphia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010526
8 astrocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002446
9 frontotemporal cerebral atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006892
10 restlessness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000711
11 parkinsonism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001300
12 personality changes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000751
13 frontotemporal dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002145
14 abnormal brain fdg positron emission tomography 59 32 frequent (33%) Frequent (79-30%) HP:0012658
15 mutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002300
16 abnormality of the cerebral white matter 59 32 frequent (33%) Frequent (79-30%) HP:0002500
17 abnormal lower motor neuron morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002366
18 perseveration 59 32 occasional (7.5%) Occasional (29-5%) HP:0030223
19 eeg with continuous slow activity 59 32 frequent (33%) Frequent (79-30%) HP:0011204
20 senile plaques 59 32 occasional (7.5%) Occasional (29-5%) HP:0100256
21 alexia 59 32 frequent (33%) Frequent (79-30%) HP:0010523
22 motor aphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002427
23 grammar-specific speech disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0006977
24 temporal cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007112
25 spoken word recognition deficit 59 32 hallmark (90%) Very frequent (99-80%) HP:0030391
26 behavioral abnormality 59 Occasional (29-5%)
27 aphasia 59 Very frequent (99-80%)
28 stroke 59 Excluded (0%)
29 abnormality of extrapyramidal motor function 59 Occasional (29-5%)
30 mental deterioration 59 Very frequent (99-80%)
31 neurofibrillary tangles 59 Excluded (0%)
32 lewy bodies 59 Excluded (0%)
33 brain neoplasm 59 Excluded (0%)

MGI Mouse Phenotypes related to Progressive Non-Fluent Aphasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 C9orf72 GRN MAPT PSEN1 TREM2 VCP
2 hematopoietic system MP:0005397 9.63 C9orf72 GRN MAPT PSEN1 TREM2 VCP
3 immune system MP:0005387 9.43 C9orf72 GRN MAPT PSEN1 TREM2 VCP
4 nervous system MP:0003631 9.17 C9orf72 CHMP2B GRN MAPT PSEN1 TREM2

Drugs & Therapeutics for Progressive Non-Fluent Aphasia

Drugs for Progressive Non-Fluent Aphasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 1 21645-51-2
2
Corticosterone Experimental Phase 1 50-22-6 5753
3 Deoxyglucose Phase 1
4 Fluorodeoxyglucose F18 Phase 1
5 Vaccines Phase 1
6 Antacids Phase 1
7 Keyhole-limpet hemocyanin Phase 1
8 Immunologic Factors Phase 1
9 Anti-Ulcer Agents Phase 1
10 Adjuvants, Immunologic Phase 1
11 Gastrointestinal Agents Phase 1
12 Antibodies Phase 1
13 Immunoglobulins Phase 1
14 Antibodies, Monoclonal Phase 1

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
2 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Completed NCT01056965 Phase 2 davunetide (AL-108, NAP);Placebo nasal spray
3 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1 C-11 PiB;F-18 FDG
4 A 24-month Phase 1 Pilot Study of AADvac1 in Patients With Non Fluent Primary Progressive Aphasia Recruiting NCT03174886 Phase 1 AADvac1 40 µg;AADvac1 160 µg
5 BIIB092 in Primary Tauopathies: CBS, nfvPPA, sMAPT, and TES Recruiting NCT03658135 Phase 1 BIIB092
6 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
7 rTMS as a Treatment for PPA Recruiting NCT03406429 Early Phase 1
8 The Neurobiology of Two Distinct Types of Progressive Apraxia of Speech Recruiting NCT03313011
9 Diagnosing Frontotemporal Lobar Degeneration Recruiting NCT02964637
10 The Swedish BioFINDER 2 Study Recruiting NCT03174938 Not Applicable
11 Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) Recruiting NCT02365922
12 Language in Primary Progressive Aphasia Recruiting NCT00537004
13 The Neural Basis for Frontotemporal Degeneration Recruiting NCT03452956
14 The Sunnybrook Dementia Study: Mapping Brain Changes in Alzheimer's, Vascular and Other Dementias Active, not recruiting NCT01800214
15 Communication Bridge Speech Therapy Research Study Active, not recruiting NCT02439853 Not Applicable
16 Transcranial Magnetic Stimulation in Nonfluent/Agrammatic Variant Primary Progressive Aphasia Not yet recruiting NCT03153540 Not Applicable

Search NIH Clinical Center for Progressive Non-Fluent Aphasia

Genetic Tests for Progressive Non-Fluent Aphasia

Anatomical Context for Progressive Non-Fluent Aphasia

MalaCards organs/tissues related to Progressive Non-Fluent Aphasia:

41
Brain, Temporal Lobe, Cortex, Skin, Bone, Prefrontal Cortex

Publications for Progressive Non-Fluent Aphasia

Articles related to Progressive Non-Fluent Aphasia:

(show all 23)
# Title Authors Year
1
Aphasia in Progressive Supranuclear Palsy: As Severe as Progressive Non-Fluent Aphasia. ( 29254097 )
2018
2
A case of Progressive Non-Fluent Aphasia as onset of Amyotrophic Lateral Sclerosis with FrontoTemporal Dementia. ( 30146930 )
2018
3
Remarkable behavioural signs and progressive non-fluent aphasia in a patient with adult-onset leucoencephalopathy with axonal spheroids and pigmented glia. ( 30393946 )
2018
4
CSF Biomarkers of Neurodegeneration in Progressive Non-fluent Aphasia and Other Forms of Frontotemporal Dementia: Clues for Pathomechanisms? ( 30013506 )
2018
5
Sporadic Creutzfeldt-Jakob disease presenting with isolated progressive non-fluent aphasia in a young woman. ( 28444466 )
2017
6
Semantic dementia, progressive non-fluent aphasia and their association with amyotrophic lateral sclerosis. ( 28554960 )
2017
7
A case of TREM2 mutation presenting with features of progressive non-fluent aphasia and without bone involvement. ( 28462591 )
2017
8
Wh- questions and passive sentences in non-fluent variant PPA and semantic variant PPA: Longitudinal findings of an anagram production task. ( 27341394 )
2016
9
Writing in Richardson variant of progressive supranuclear palsy in comparison to progressive non-fluent aphasia. ( 26188937 )
2015
10
Structural neuroimaging of social cognition in progressive non-fluent aphasia and behavioral variant of frontotemporal dementia. ( 23966929 )
2013
11
Progressive non-fluent aphasia in a bilingual subject: relative preservation of "mother tongue". ( 22450655 )
2012
12
Activities of daily living in progressive non-fluent aphasia, logopenic progressive aphasia and Alzheimer's disease. ( 22796966 )
2012
13
Prefrontal cortex rTMS enhances action naming in progressive non-fluent aphasia. ( 22435956 )
2012
14
Clinicopathologic analysis of progressive non-fluent aphasia and corticobasal degeneration: Case report and review. ( 29213736 )
2011
15
Frontal lobe damage impairs process and content in semantic memory: evidence from category-specific effects in progressive non-fluent aphasia. ( 20576258 )
2011
16
Speech errors in progressive non-fluent aphasia. ( 20074786 )
2010
17
Making sense of progressive non-fluent aphasia: an analysis of conversational speech. ( 19696033 )
2009
18
Repeat and Point: differentiating semantic dementia from progressive non-fluent aphasia. ( 18761140 )
2008
19
Corticobasal degeneration as cause of progressive non-fluent aphasia: clinical, radiological and pathological study of an autopsy case. ( 17203595 )
2006
20
Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. ( 17003069 )
2006
21
Progressive non-fluent aphasia is associated with hypometabolism centred on the left anterior insula. ( 12902311 )
2003
22
Varieties of progressive non-fluent aphasia. ( 8624092 )
1996
23
Primary progressive non-fluent aphasia: a case study. ( 2055038 )
1991

Variations for Progressive Non-Fluent Aphasia

Expression for Progressive Non-Fluent Aphasia

Search GEO for disease gene expression data for Progressive Non-Fluent Aphasia.

Pathways for Progressive Non-Fluent Aphasia

Pathways related to Progressive Non-Fluent Aphasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.87 MAPT PSEN1 TREM2
2 11.62 CHMP2B MAPT VCP
3 10.28 MAPT PSEN1

GO Terms for Progressive Non-Fluent Aphasia

Cellular components related to Progressive Non-Fluent Aphasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 C9orf72 GRN MAPT TREM2 VCP
2 dendrite GO:0030425 9.61 C9orf72 MAPT PSEN1
3 neuron projection GO:0043005 9.58 C9orf72 MAPT PSEN1
4 endosome GO:0005768 9.56 C9orf72 CHMP2B GRN TMEM106B
5 axon GO:0030424 9.54 C9orf72 MAPT PSEN1
6 azurophil granule lumen GO:0035578 9.48 GRN VCP
7 growth cone GO:0030426 9.33 C9orf72 MAPT PSEN1
8 cytoplasmic stress granule GO:0010494 9.32 C9orf72 VCP
9 lysosome GO:0005764 9.26 C9orf72 CHMP2B GRN TMEM106B
10 main axon GO:0044304 8.62 C9orf72 MAPT

Biological processes related to Progressive Non-Fluent Aphasia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.7 GRN PSEN1 VCP
2 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.51 MAPT VCP
3 macroautophagy GO:0016236 9.49 CHMP2B VCP
4 memory GO:0007613 9.48 MAPT PSEN1
5 negative regulation of protein phosphorylation GO:0001933 9.46 C9orf72 PSEN1
6 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.43 PSEN1 VCP
7 cellular response to heat GO:0034605 9.4 MAPT VCP
8 regulation of autophagy GO:0010506 9.37 C9orf72 MAPT
9 regulation of synaptic plasticity GO:0048167 9.32 MAPT PSEN1
10 synapse organization GO:0050808 9.26 MAPT PSEN1
11 stress granule assembly GO:0034063 9.16 C9orf72 MAPT
12 astrocyte activation GO:0048143 8.96 MAPT PSEN1
13 autophagy GO:0006914 8.92 C9orf72 CHMP2B PSEN1 VCP

Sources for Progressive Non-Fluent Aphasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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