PPA
MCID: PRM052
MIFTS: 52

Primary Progressive Aphasia (PPA) malady

Genetic diseases, Rare diseases, Fetal diseases categories
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Summaries for Primary Progressive Aphasia

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NIH Rare Diseases:42 Primary progressive aphasia (ppa) is a disorder characterized by language disturbance, including difficulty making or understanding speech (aphasia). in the early stages, ppa often causes difficulty with naming, word finding, or word comprehension. in later stages, affected people often become mute and lose their ability to communicate. ppa may sometimes be the initial manifestation of another neurodegenerative disease, such as frontotemporal dementia or alzheimer disease. in some cases, ppa is caused by mutations in the grn gene and is inherited in an autosomal dominant maner. ppa can be classified into three distinct types which include progressive non-fluent aphasia (pnfa), semantic dementia (sd), and the logopenic variant (lpa). last updated: 9/10/2014

MalaCards based summary: Primary Progressive Aphasia, also known as aphasia, primary progressive, is related to aphasia and frontotemporal lobar degeneration with ubiquitin-positive inclusions. An important gene associated with Primary Progressive Aphasia is GRN (granulin), and among its related pathways are Statin Pathway and Glypican 1 network. The compounds dimyristoylphosphatidylcholine and metrifonate have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related mouse phenotypes are pigmentation and other.

NINDS:43 Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick?s disease, the name and classification of FTD has been a topic of discussion for over a century.

Wikipedia:65 Primary progressive aphasia (PPA) is a group of disorders characterized by progressive language and... more...

Description from OMIM:46 607485

Aliases & Classifications for Primary Progressive Aphasia

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Sources:
42NIH Rare Diseases, 43NINDS, 46OMIM, 44Novoseek, 62UMLS
See all sources

Primary Progressive Aphasia, Aliases & Descriptions:

Name: Primary Progressive Aphasia 42 43 62
Aphasia, Primary Progressive 42 46
Primary Progressive Aphasia Syndrome 42
 
Aphasia Primary Progressive 44
Ppa 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases


Related Diseases for Primary Progressive Aphasia

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Diseases in the Primary Progressive Aphasia family:

Aphasia

Diseases related to Primary Progressive Aphasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1aphasia32.0GRN, TARDBP, MAPT
2frontotemporal lobar degeneration with ubiquitin-positive inclusions31.2GRN
3semantic dementia31.1MAPT, GRN
4apraxia30.9GRN, MAPT
5progressive supranuclear palsy30.2TARDBP, GRN, MAPT, APOE
6frontotemporal dementia30.1TARDBP, GRN, APP, APOE, MAPT, LRRK2
7pick's disease30.1MAPT, APOE, APP, TARDBP
8tauopathy30.0MAPT, GRN, APP, LRRK2
9dementia29.9APOE, PRNP, APP, APOC1, GRN, LRRK2
10creutzfeldt-jakob disease29.7APOE, APP, PRNP, MAPT
11amyloidosis29.6APP, PRNP, MAPT, APOE
12alzheimer's disease29.3APP, MAPT, TARDBP, TOMM40, APOC1, APOE
13corticobasal degeneration10.6
14kuru10.5PRNP
15logopenic progressive aphasia10.5
16genetic prion diseases10.5PRNP
17cerebral amyloid angiopathy10.4APP
18lrrk2-related parkinson disease10.4LRRK2
19progressive non-fluent aphasia10.4
20inclusion body myositis10.4APP
21transient global amnesia10.3
22dysgraphia10.3
23neuronitis10.3
24cerebritis10.3
25agnosia10.3
26familial creutzfeldt-jakob disease10.3APOE, PRNP
27gerstmann-straussler-scheinker syndrome10.2APP, PRNP
28binswanger's disease10.2APOE, APP
29stroke, hemorrhagic10.2APOE, APP
30speech and communication disorders10.2APOE, FOXP2
31ideomotor apraxia10.1
32learning disability10.1
33reading disorder10.1
34speech disorder10.1
35foix chavany marie syndrome10.1
36cerebrovascular disease10.1APOE, APP
37hemorrhage, intracerebral10.1APP, APOE, PRNP
38scrapie10.0MAPT, PRNP
39spinocerebellar ataxia10.0MAPT, PRNP
40parkinson disease type 310.0MAPT, LRRK2
41hypertriglyceridemia10.0APOE, APOC1
42niemann-pick disease type c110.0APP, MAPT
43brain ischemia10.0APP, MAPT
44movement disease9.9MAPT, LRRK2
45motor neuron disease9.9TARDBP, GRN, MAPT
46prion disease9.9PRNP, MAPT, APP
47multiple system atrophy9.9MAPT, LRRK2, PRNP
48glioblastoma9.9GRN, PRNP, APP
49central nervous system disease9.9MAPT, APP
50teratocarcinoma9.9MAPT, APP

Graphical network of the top 20 diseases related to Primary Progressive Aphasia:



Diseases related to primary progressive aphasia

Symptoms for Primary Progressive Aphasia

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Clinical features from OMIM:

607485

Drugs & Therapeutics for Primary Progressive Aphasia

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Drug clinical trials:

Search ClinicalTrials for Primary Progressive Aphasia

Search NIH Clinical Center for Primary Progressive Aphasia

Genetic Tests for Primary Progressive Aphasia

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Anatomical Context for Primary Progressive Aphasia

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MalaCards organs/tissues related to Primary Progressive Aphasia:

32
Brain, Temporal lobe, Cortex, Testes

Animal Models for Primary Progressive Aphasia or affiliated genes

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MGI Mouse Phenotypes related to Primary Progressive Aphasia:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9LRRK2, APOE, GRN
2MP:00053958.3APOE, APP, PRNP, MAPT
3MP:00053918.2MAPT, FOXP2, PRNP, APOE
4MP:00053697.4APOE, APP, PRNP, FOXP2, MAPT, TARDBP
5MP:00053787.2APOE, APP, PRNP, FOXP2, MAPT, TARDBP
6MP:00053767.1LRRK2, APOE, APOC1, APP, PRNP, FOXP2
7MP:00053977.1LRRK2, APOE, PRNP, FOXP2, MAPT, GRN
8MP:00030126.7TARDBP, LRRK2, APOE, APP, PRNP, FOXP2
9MP:00053866.7LRRK2, APOE, APP, PRNP, FOXP2, MAPT
10MP:00053876.7LRRK2, APOE, APP, PRNP, FOXP2, MAPT
11MP:00053846.7LRRK2, APOE, APP, PRNP, FOXP2, MAPT
12MP:00036316.6LRRK2, APOE, APP, PRNP, FOXP2, MAPT
13MP:00107686.5LRRK2, APOE, APP, PRNP, FOXP2, MAPT

Publications for Primary Progressive Aphasia

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Articles related to Primary Progressive Aphasia:

(show top 50)    (show all 284)
idTitleAuthorsYear
1
Frontotemporal dementia and primary progressive aphasia, a review. (24966676)
2014
2
Frontal white matter tracts sustaining speech production in primary progressive aphasia. (25031413)
2014
3
Inflectional morphology in primary progressive aphasia: an elicited production study. (25129631)
2014
4
Motor Speech Disorders Associated with Primary Progressive Aphasia. (25309017)
2014
5
Patterns of longitudinal brain atrophy in the logopenic variant of primary progressive aphasia. (23395096)
2013
6
Classification and pathology of primary progressive aphasia. (24142474)
2013
7
A case of primary progressive aphasia associated with psychosis. (24247878)
2013
8
Primary progressive aphasia and the language network: the 2013 H. Houston Merritt Lecture. (23897873)
2013
9
Words and objects at the tip of the left temporal lobe in primary progressive aphasia. (23361063)
2013
10
FOXP2, APOE, and PRNP: new modulators in primary progressive aphasia. (22129783)
2012
11
Crossed aphasia in a dextral patient with logopenic/phonological variant of primary progressive aphasia. (21959362)
2012
12
Gray matter density of auditory association cortex relates to knowledge of sound concepts in primary progressive aphasia. (22674273)
2012
13
Alzheimer's pathology in primary progressive aphasia. (20580129)
2012
14
Anatomic, clinical, and neuropsychological correlates of spelling errors in primary progressive aphasia. (22579708)
2012
15
Semantic interference during object naming in agrammatic and logopenic primary progressive aphasia (PPA). (22244508)
2012
16
Parkinsonian motor features distinguish the agrammatic from logopenic variant of primary progressive aphasia. (22575236)
2012
17
Asymmetric TDP-43 distribution in primary progressive aphasia with progranulin mutation. (20479359)
2010
18
Phenomenology and anatomy of abnormal behaviours in primary progressive aphasia. (20400120)
2010
19
The Portuguese who could no longer speak French: primary progressive aphasia in a bilingual man. (20160239)
2010
20
Multimodal predictors for Alzheimer disease in nonfluent primary progressive aphasia. (20713948)
2010
21
The nature of naming errors in primary progressive aphasia versus acute post-stroke aphasia. (20804246)
2010
22
The logopenic variant of primary progressive aphasia. (20852419)
2010
23
Primary progressive aphasia: clinicopathological correlations. (20139998)
2010
24
Loss of word-meaning with spared object semantics in a case of mixed primary progressive aphasia. (20034661)
2010
25
Reading disorders in primary progressive aphasia: a behavioral and neuroimaging study. (19428421)
2009
26
Perispinal etanercept produces rapid improvement in primary progressive aphasia: identification of a novel, rapidly reversible TNF-mediated pathophysiologic mechanism. (18679537)
2008
27
Foreign accent syndrome as the initial sign of primary progressive aphasia. (17635973)
2008
28
Self-awareness and self-monitoring of cognitive and behavioral deficits in behavioral variant frontotemporal dementia, primary progressive aphasia and probable Alzheimer's disease. (18194832)
2008
29
Cognitive deficits and reduced insight in primary progressive aphasia. (18836134)
2008
30
Primary progressive aphasia: relationship between gender and severity of language impairment. (17356343)
2007
31
A review on primary progressive aphasia. (19300609)
2007
32
The mini-mental state examination in behavioral variant frontotemporal dementia and primary progressive aphasia. (18166606)
2007
33
Primary progressive aphasia: a case report. (17965034)
2007
34
Primary progressive aphasia. (17373342)
2007
35
Apoe epsilon2-epsilon4 genotype is a possible risk factor for primary progressive aphasia. (16437577)
2006
36
A case study of Primary Progressive Aphasia: improvement on verbs after rTMS treatment. (17182394)
2006
37
Different patterns of Mini Mental Status Examination responses in primary progressive aphasia and Alzheimer's disease. (16987166)
2006
38
Semantic dementia and fluent primary progressive aphasia: two sides of the same coin? (17071925)
2006
39
Deterioration of naming nouns versus verbs in primary progressive aphasia. (14755731)
2004
40
Primary progressive aphasia: a review. (15849155)
2004
41
Emotional prosody in primary progressive aphasia. (15249645)
2004
42
Primary progressive aphasia--a language-based dementia. (14561797)
2003
43
Frontotemporal decreases in rCBF correlate with degree of dysnomia in primary progressive aphasia. (10688104)
2000
44
An autopsy case of Alzheimer's disease presenting with primary progressive aphasia: a clinicopathological and immunohistochemical study. (11132942)
2000
45
Primary progressive aphasia: a patient with stress assignment impairment in reading aloud. (10938201)
2000
46
Apolipoprotein E genotypes in primary progressive aphasia. (9222169)
1997
47
Imaging in primary progressive aphasia. (9272491)
1997
48
Primary progressive aphasia and frontal lobe involvement. (8559410)
1996
49
Unilateral basal ganglia involvement in primary progressive aphasia. (7543938)
1995
50
Primary progressive aphasia. An uncommon masquerader of psychiatric disorders. (8171172)
1994

Variations for Primary Progressive Aphasia

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UniProtKB/Swiss-Prot genetic disease variations for Primary Progressive Aphasia:

64
id Symbol AA change Variation ID SNP ID
1GRNp.Ala9AspVAR_044451

Clinvar genetic disease variations for Primary Progressive Aphasia:

6 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1GRNGRN, IVS0, G-C, +5single nucleotide variantPathogenic
2GRNNM_002087.2(GRN): c.373C> T (p.Gln125Ter)single nucleotide variantPathogenicrs63750077GRCh37Chr 17, 42427619: 42427619
3GRNNM_002087.2(GRN): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs63751006GRCh37Chr 17, 42426534: 42426534
4GRNNM_002087.2(GRN): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs63750331GRCh37Chr 17, 42426535: 42426535
5GRNGRN, 4-BP INS, NT90insertionPathogenic
6GRNGRN, 4-BP DEL, NT388deletionPathogenic
7GRNGRN, IVS8, G-A, +1single nucleotide variantPathogenic
8GRNNM_002087.2(GRN): c.26C> A (p.Ala9Asp)single nucleotide variantPathogenicrs63751243GRCh37Chr 17, 42426558: 42426558
9GRNNM_002087.2(GRN): c.1477C> T (p.Arg493Ter)single nucleotide variantPathogenicrs63751294GRCh37Chr 17, 42429772: 42429772
10GRNGRN, 1-BP INS, 1145AinsertionPathogenic
11GRNGRN, IVS6AS, A-G, -2single nucleotide variantPathogenic
12GRNNM_002087.2(GRN): c.813_816delCACT (p.Thr272Serfs)deletionPathogenicrs63749877GRCh37Chr 17, 42428509: 42428512
13GRNGRN, 1-BP DEL, 102CdeletionPathogenic
14GRNGRN, 1-BP DEL, 154AdeletionPathogenic
15GRNGRN, IVS6AS, G-A, -1single nucleotide variantPathogenic

Expression for genes affiliated with Primary Progressive Aphasia

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Expression patterns in normal tissues for genes affiliated with Primary Progressive Aphasia

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Pathways for genes affiliated with Primary Progressive Aphasia

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Pathways related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7APOC1, APOE
29.6APP, PRNP
39.5APP, APOE
4
Show member pathways
Alzheimers Disease37
8.7MAPT, APP, APOE
58.7MAPT, APP, APOE
68.7APOE, APP, MAPT
77.7TARDBP, MAPT, APP, APOE, LRRK2

Compounds for genes affiliated with Primary Progressive Aphasia

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Compounds related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1dimyristoylphosphatidylcholine4410.0APOC1, APOE
2metrifonate449.9APOE, APP
324s-hydroxy-cholesterol449.9APOE, APP
4thioflavin t449.9APOE, APP
5antivirals for treatment of hiv infections, combinations509.8APOE, APOC1, TOMM40
6ritonavir44 50 1111.8APOE, APOC1, TOMM40
7tmao449.7APOC1, MAPT
8guanidine hydrochloride449.6PRNP, APOE
9thioflavin449.5MAPT, APP
10ibuprofen44 28 50 24 1113.5APP, APOE
11memantine44 28 50 1112.5MAPT, APP
12spec-t449.4APOE, MAPT
13valproate449.3MAPT, APP
14guanidine44 24 1111.2MAPT, PRNP, APOE
15thioflavine s449.1MAPT, APP, APOE
16tacrine44 1110.1MAPT, APP, APOE
17donepezil44 50 24 1112.1APOE, APP, MAPT
18galantamine44 50 1111.1MAPT, APP, APOE
19vitamin b12449.1MAPT, APOE
20formaldehyde44 2410.1APP, PRNP, MAPT
214-hydroxynonenal44 2410.1MAPT, APP, APOE
22chloroquine44 2 50 28 1113.1MAPT, APP, APOE
23lactacystin449.0MAPT, APP, APOE
24folate449.0APOE, APP, MAPT
25nicotine44 28 50 1112.0MAPT, APP, APOE
26paraffin448.9MAPT, PRNP, APOE
27nmda44 289.9MAPT, APP, APOE
28acetylcholine44 50 28 24 1112.9MAPT, APP, APOE
29cholesterol44 28 24 1111.9PRNP, TOMM40, APP, APOC1, APOE
30vegf448.9APOE, APP, FOXP2, GRN
31actinomycin d448.9APOE, APP, MAPT
32c2ceramide448.8MAPT, APP
33cyclosporin a44 28 6110.7APOE, APP, MAPT
34formate448.7APOE, APP, PRNP, MAPT
35valine448.7APOE, APP, PRNP, MAPT
36aspartate448.7MAPT, PRNP, APP, APOE
37heparin44 28 24 1111.6APOE, APP, PRNP, MAPT
38h2o2448.6MAPT, PRNP, APP, APOE
39cysteine448.6GRN, MAPT, APP, APOE
40arginine448.6APOE, APP, PRNP, MAPT
41dopamine44 28 24 1111.5LRRK2, APOE, APP, MAPT
42glutamine448.4APOE, APP, FOXP2, MAPT
43sodium dodecylsulfate448.4MAPT, PRNP, APP, APOC1, APOE
44lipid448.4LRRK2, APOE, APOC1, APP, TOMM40, PRNP
45estrogen448.3GRN, MAPT, FOXP2, APOC1, APOE
46glutamate448.1APOE, APP, PRNP, FOXP2, MAPT
47alanine447.8APOE, APOC1, APP, PRNP, FOXP2, MAPT

GO Terms for genes affiliated with Primary Progressive Aphasia

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Cellular components related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:0426279.7APOC1, APOE
2high-density lipoprotein particleGO:0343649.7APOC1, APOE
3very-low-density lipoprotein particleGO:0343619.4APOC1, APOE
4axonGO:0304248.5MAPT, APP, LRRK2

Biological processes related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particle clearanceGO:03444710.0APOC1, APOE
2chylomicron remnant clearanceGO:03438210.0APOC1, APOE
3positive regulation of cholesterol esterificationGO:0108739.9APOE, APOC1
4phospholipid effluxGO:0337009.9APOE, APOC1
5high-density lipoprotein particle remodelingGO:0343759.8APOC1, APOE
6cellular copper ion homeostasisGO:0068789.7APP, PRNP
7lipoprotein metabolic processGO:0421579.7APOC1, APOE
8cholesterol effluxGO:0333449.6APOC1, APOE
9cholesterol metabolic processGO:0082039.4APP, APOC1, APOE
10triglyceride metabolic processGO:0066419.4APOC1, APOE
11cell deathGO:0082199.4TARDBP, GRN, APOE
12axon cargo transportGO:0080889.3MAPT, APP
13response to oxidative stressGO:0069799.3PRNP, APP, LRRK2
14positive regulation of axon extensionGO:0457739.2APOE, MAPT

Molecular functions related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.6APOE, APOC1
2tubulin bindingGO:0156319.3LRRK2, PRNP
3lipoprotein particle bindingGO:0718139.2APOE, MAPT
4identical protein bindingGO:0428028.3TARDBP, PRNP, APP, APOE, LRRK2
5protein bindingGO:0055157.1TARDBP, GRN, MAPT, PRNP, APP, APOE

Products for genes affiliated with Primary Progressive Aphasia

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Sources for Primary Progressive Aphasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet