MCID: PRG033
MIFTS: 48

Progressive Non-Fluent Aphasia

Categories: Rare diseases, Neuronal 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 supranuclear palsy, progressive, 1. 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 Fluorodeoxyglucose F18 and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and skin, and related phenotypes are thickened nuchal skin fold and restlessness

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 49)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 32.3 GRN MAPT
2 supranuclear palsy, progressive, 1 28.8 C9orf72 GRN MAPT PSEN1
3 aphasia 28.4 C9orf72 CHMP2B GRN MAPT PSEN1
4 semantic dementia 26.1 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
5 dementia 25.5 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
6 frontotemporal dementia 25.3 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
7 behavioral variant of frontotemporal dementia 25.0 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
8 amyotrophic lateral sclerosis 1 25.0 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
9 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 12.4
10 phonagnosia 10.5 GRN PSEN1
11 associative agnosia 10.5 GRN PSEN1
12 writing disorder 10.5 GRN PSEN1
13 prosopagnosia 10.4 GRN PSEN1
14 gait apraxia 10.4 GRN PSEN1
15 early-onset, autosomal dominant alzheimer disease 10.4 PSEN1 TREM2
16 visual agnosia 10.3 GRN PSEN1
17 corticobasal degeneration 10.2
18 frontotemporal dementia with parkinsonism-17 10.2
19 classic progressive supranuclear palsy syndrome 10.2
20 familial idiopathic basal ganglia calcification 10.2 MAPT PSEN1
21 kluver-bucy syndrome 10.2 MAPT PSEN1
22 alzheimer disease 2 10.1 MAPT PSEN1
23 mutism 10.1 CHMP2B GRN
24 lateral sclerosis 10.1
25 logopenic progressive aphasia 10.1
26 alzheimer disease 10.1
27 creutzfeldt-jakob disease 10.1
28 cognitive function 1, social 10.1
29 cerebral amyloid angiopathy, cst3-related 10.0 MAPT PSEN1
30 specific developmental disorder 10.0 GRN PSEN1
31 echolalia 9.9 GRN MAPT PSEN1
32 vascular dementia 9.9 MAPT PSEN1
33 agraphia 9.9 GRN MAPT PSEN1
34 ideomotor apraxia 9.9 GRN MAPT PSEN1
35 pick disease of brain 9.9 GRN MAPT PSEN1
36 dementia, lewy body 9.9 GRN MAPT PSEN1
37 disease of mental health 9.9 GRN MAPT PSEN1
38 inclusion body myositis 9.9 MAPT VCP
39 perry syndrome 9.7 C9orf72 GRN
40 amyotrophic lateral sclerosis 21 9.7 C9orf72 VCP
41 synucleinopathy 9.2 CHMP2B MAPT
42 apraxia 9.0 C9orf72 GRN MAPT PSEN1
43 speech and communication disorders 9.0 C9orf72 GRN MAPT PSEN1
44 central nervous system disease 8.9 C9orf72 GRN MAPT PSEN1
45 nervous system disease 8.9 C9orf72 GRN MAPT PSEN1
46 motor neuron disease 8.8 C9orf72 GRN MAPT VCP
47 nominal aphasia 7.7 C9orf72 CHMP2B GRN MAPT PSEN1 VCP
48 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 7.7 C9orf72 CHMP2B GRN PSEN1 TMEM106B VCP
49 basal ganglia disease 6.6 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 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
2 restlessness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000711
3 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
4 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
5 personality changes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000751
6 parkinsonism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001300
7 frontotemporal dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002145
8 apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0002186
9 mutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002300
10 memory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002354
11 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
12 abnormal lower motor neuron morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002366
13 motor aphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002427
14 astrocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002446
15 abnormality of the cerebral white matter 59 32 frequent (33%) Frequent (79-30%) HP:0002500
16 frontotemporal cerebral atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006892
17 grammar-specific speech disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0006977
18 temporal cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007112
19 alexia 59 32 frequent (33%) Frequent (79-30%) HP:0010523
20 dysgraphia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010526
21 eeg with continuous slow activity 59 32 frequent (33%) Frequent (79-30%) HP:0011204
22 perseveration 59 32 occasional (7.5%) Occasional (29-5%) HP:0030223
23 abnormal brain fdg positron emission tomography 59 32 frequent (33%) Frequent (79-30%) HP:0012658
24 spoken word recognition deficit 59 32 hallmark (90%) Very frequent (99-80%) HP:0030391
25 senile plaques 59 32 occasional (7.5%) Occasional (29-5%) HP:0100256
26 behavioral abnormality 59 Occasional (29-5%)
27 mental deterioration 59 Very frequent (99-80%)
28 stroke 59 Excluded (0%)
29 abnormality of extrapyramidal motor function 59 Occasional (29-5%)
30 neurofibrillary tangles 59 Excluded (0%)
31 aphasia 59 Very frequent (99-80%)
32 brain neoplasm 59 Excluded (0%)
33 lewy bodies 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 PSEN1 TREM2 VCP C9orf72 GRN MAPT
2 hematopoietic system MP:0005397 9.63 TREM2 VCP C9orf72 GRN MAPT PSEN1
3 immune system MP:0005387 9.43 PSEN1 TREM2 VCP C9orf72 GRN MAPT
4 nervous system MP:0003631 9.17 TREM2 VCP C9orf72 CHMP2B GRN MAPT

Drugs & Therapeutics for Progressive Non-Fluent Aphasia

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

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

Interventional clinical trials:

(show all 15)
# 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 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
6 The Neurobiology of Two Distinct Types of Progressive Apraxia of Speech Recruiting NCT03313011
7 Diagnosing Frontotemporal Lobar Degeneration Recruiting NCT02964637
8 The Swedish BioFINDER 2 Study Recruiting NCT03174938 Not Applicable
9 Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) Recruiting NCT02365922
10 Language in Primary Progressive Aphasia Recruiting NCT00537004
11 The Neural Basis for Frontotemporal Degeneration Recruiting NCT03452956
12 The Sunnybrook Dementia Study: Mapping Brain Changes in Alzheimer's, Vascular and Other Dementias Active, not recruiting NCT01800214
13 Communication Bridge Speech Therapy Research Study Active, not recruiting NCT02439853 Not Applicable
14 Transcranial Magnetic Stimulation in Nonfluent/Agrammatic Variant Primary Progressive Aphasia Not yet recruiting NCT03153540 Not Applicable
15 rTMS as a Treatment for PPA Not yet recruiting NCT03406429 Early Phase 1

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, Skin, Prefrontal Cortex, Cortex, Bone

Publications for Progressive Non-Fluent Aphasia

Articles related to Progressive Non-Fluent Aphasia:

(show all 19)
# Title Authors Year
1
Aphasia in Progressive Supranuclear Palsy: As Severe as Progressive Non-Fluent Aphasia. ( 29254097 )
2018
2
Sporadic Creutzfeldt-Jakob disease presenting with isolated progressive non-fluent aphasia in a young woman. ( 28444466 )
2017
3
Semantic dementia, progressive non-fluent aphasia and their association with amyotrophic lateral sclerosis. ( 28554960 )
2017
4
A case of TREM2 mutation presenting with features of progressive non-fluent aphasia and without bone involvement. ( 28462591 )
2017
5
Writing in Richardson variant of progressive supranuclear palsy in comparison to progressive non-fluent aphasia. ( 26188937 )
2015
6
Structural neuroimaging of social cognition in progressive non-fluent aphasia and behavioral variant of frontotemporal dementia. ( 23966929 )
2013
7
Progressive non-fluent aphasia in a bilingual subject: relative preservation of "mother tongue". ( 22450655 )
2012
8
Activities of daily living in progressive non-fluent aphasia, logopenic progressive aphasia and Alzheimer's disease. ( 22796966 )
2012
9
Prefrontal cortex rTMS enhances action naming in progressive non-fluent aphasia. ( 22435956 )
2012
10
Clinicopathologic analysis of progressive non-fluent aphasia and corticobasal degeneration: Case report and review. ( 29213736 )
2011
11
Frontal lobe damage impairs process and content in semantic memory: evidence from category-specific effects in progressive non-fluent aphasia. ( 20576258 )
2011
12
Speech errors in progressive non-fluent aphasia. ( 20074786 )
2010
13
Making sense of progressive non-fluent aphasia: an analysis of conversational speech. ( 19696033 )
2009
14
Repeat and Point: differentiating semantic dementia from progressive non-fluent aphasia. ( 18761140 )
2008
15
Corticobasal degeneration as cause of progressive non-fluent aphasia: clinical, radiological and pathological study of an autopsy case. ( 17203595 )
2006
16
Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. ( 17003069 )
2006
17
Progressive non-fluent aphasia is associated with hypometabolism centred on the left anterior insula. ( 12902311 )
2003
18
Varieties of progressive non-fluent aphasia. ( 8624092 )
1996
19
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 endosome GO:0005768 9.56 C9orf72 CHMP2B GRN TMEM106B
2 dendrite GO:0030425 9.54 C9orf72 MAPT PSEN1
3 axon GO:0030424 9.5 C9orf72 MAPT PSEN1
4 growth cone GO:0030426 9.33 C9orf72 MAPT PSEN1
5 lysosome GO:0005764 9.26 C9orf72 CHMP2B GRN TMEM106B
6 main axon GO:0044304 8.62 C9orf72 MAPT

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

# Name GO ID Score Top Affiliating Genes
1 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.48 MAPT VCP
2 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.46 PSEN1 VCP
3 memory GO:0007613 9.43 MAPT PSEN1
4 negative regulation of protein phosphorylation GO:0001933 9.4 C9orf72 PSEN1
5 regulation of autophagy GO:0010506 9.37 C9orf72 MAPT
6 regulation of synaptic plasticity GO:0048167 9.32 MAPT PSEN1
7 synapse organization GO:0050808 9.26 MAPT PSEN1
8 stress granule assembly GO:0034063 9.16 C9orf72 MAPT
9 astrocyte activation GO:0048143 8.96 MAPT PSEN1
10 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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