PPA
MCID: PRM052

Primary Progressive Aphasia malady

Summaries for Primary Progressive Aphasia

Sources:
30NIH Rare Diseases, 31NINDS, 44Wikipedia, 22MalaCards
See all sources

Export this MalaCard
NIH Rare Diseases: Primary progressive aphasia (PPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). PPA can be part of frontotemporal dementia or Alzheimer disease. Spatial skills and memory usually remain intact. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. In some cases, PPA is inherited in an autosomal dominant fashion and caused by mutations in the GRN gene.PPA can be classified into three distinct variants based on language profiles, which include progressive non-fluent aphasia (PNFA), semantic dementia (SD), and the recently characterized logopenic variant (LPA).30

MalaCards: Primary Progressive Aphasia, also known as primary progressive aphasia (disorder), is related to semantic dementia and aphasia. An important gene associated with Primary Progressive Aphasia is GRN (granulin), and among its related pathways are Alzheimers Disease Pathway and Neuroscience. The compounds thioflavin and thioflavine s have been mentioned in the context of this disorder. Affiliated tissues include brain and temporal lobe, and related mouse phenotypes are other and homeostasis/metabolism.

NINDS: 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.31

Wikipedia: Primary progressive aphasia (PPA) is characterized by progressive language and speech disorders. It was...44 more...

Aliases & Descriptions for Primary Progressive Aphasia

Sources:
30NIH Rare Diseases, 31NINDS, 32Novoseek , 43UMLS
See all sources
primary progressive aphasia 30 31
primary progressive aphasia (disorder) 43
primary progressive aphasia syndrome 30
aphasia, primary progressive 30
aphasia primary progressive 32
aphasia 43
ppa 30

Related Diseases for Primary Progressive Aphasia

Sources:
13GeneCards, 14GeneDecks
See all sources

Diseases related to primary progressive aphasia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1semantic dementia30.5MAPT, TARDBP, GRN
2aphasia30.2GRN, APP, PRNP, TARDBP, LRRK2, MAPT
3apraxia29.0GRN, MAPT
4frontotemporal dementia27.8LRRK2, TARDBP, PRNP, MAPT, GRN, APP
5corticobasal degeneration27.0MAPT, TARDBP
6progressive supranuclear palsy26.5MAPT, LRRK2
7dementia26.4GRN, LRRK2, MAPT, PRNP, APP, TARDBP
8neuronitis25.9GRN, MAPT, LRRK2, TARDBP, PRNP, APP
9supranuclear palsy25.1MAPT, PRNP, LRRK2, APP
10perry syndrome13.1GRN, TARDBP
11frontotemporal lobar degeneration with ubiquitin-positive inclusions13.1GRN, TARDBP
12amyotrophic lateral sclerosis with frontotemporal dementia13.1GRN, TARDBP
13inclusion body myopathy12.8APP, TARDBP
14gaze palsy12.8TARDBP, MAPT
15familial idiopathic basal ganglia calcification12.8APP, MAPT
16early-onset familial alzheimer disease12.8APP, MAPT
17alzheimer disease type 112.8APP, MAPT
18basal ganglia calcification12.8APP, MAPT
19parkinson disease type 312.8LRRK2, MAPT
20inclusion body myositis12.7MAPT, APP
21binswanger's disease12.7APP, MAPT
22niemann-pick disease type c112.7APP, MAPT
23alzheimer disease type 212.7MAPT, APP
24cognitive disease12.7MAPT, APP
25movement disease12.6MAPT, LRRK2
26niemann–pick disease12.6MAPT, APP
27gerstmann-straussler-scheinker disease12.6APP, PRNP
28central nervous system disease12.6MAPT, APP
29mucopolysaccharidosis12.5MAPT, APP
30traumatic brain injury12.5TARDBP, GRN, APP
31motor neuron disease12.4GRN, TARDBP, MAPT
32wernicke encephalopathy12.4PRNP, MAPT
33estrogen-receptor negative breast cancer12.4PRNP, GRN
34olivopontocerebellar atrophy12.3MAPT, PRNP
35encephalitis12.2MAPT, GRN, APP
36central pontine myelinolysis12.2PRNP, APP
37wilson disease12.1PRNP, APP
38creutzfeldt-jakob syndrome12.0PRNP, MAPT, APP
39amyloid tumor12.0MAPT, PRNP, APP
40scrapie12.0PRNP, APP, MAPT
41cerebral amyloid angiopathy12.0PRNP, MAPT, APP
42gliosis12.0APP, PRNP, MAPT
43aicardi-goutieres syndrome12.0APP, MAPT, PRNP
44pick's disease11.9APP, GRN, TARDBP, MAPT
45vascular dementia11.9PRNP, APP, MAPT
46brain injury11.9TARDBP, APP, MAPT, GRN
47multiple system atrophy11.9LRRK2, PRNP, MAPT
48toxic encephalopathy11.9APP, MAPT, PRNP
49tauopathy11.9APP, MAPT, GRN, LRRK2
50lewy body dementia11.9MAPT, LRRK2, APP, GRN

Graphical network of the top 20 diseases related to primary progressive aphasia:



Graphical network of diseases related to primary progressive aphasia

Clinical Features for Primary Progressive Aphasia

Drugs & Therapeutics for Primary Progressive Aphasia

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
See all sources

Approved drugs:

Search CenterWatch for primary progressive aphasia

Drug clinical trials:

Search ClinicalTrials for primary progressive aphasia

Search NIH Clinical Center for primary progressive aphasia

Search CenterWatch for primary progressive aphasia

Genetic Tests for Primary Progressive Aphasia

Anatomical Context for Primary Progressive Aphasia

Sources:
22MalaCards
See all sources

MalaCards organs/tissues related to primary progressive aphasia:

22
Brain, Temporal lobe

Phenotypes for genes affiliated with Primary Progressive Aphasia

Sources:
25MGI
See all sources

MGI Mouse Phenotypes related to primary progressive aphasia:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1other phenotypeMP:00053958.9PRNP, APP, MAPT
2homeostasis/metabolism phenotypeMP:00053767.7TARDBP, APP, GRN, PRNP, LRRK2
3immune system phenotypeMP:00053877.6MAPT, LRRK2, PRNP, APP, GRN
4nervous system phenotypeMP:00036317.5APP, GRN, MAPT, LRRK2, PRNP
5no phenotypic analysisMP:00030127.3GRN, LRRK2, PRNP, TARDBP, MAPT, APP
6behavior/neurological phenotypeMP:00053867.2TARDBP, LRRK2, PRNP, APP, GRN, MAPT
7cellular phenotypeMP:00053847.2PRNP, LRRK2, APP, MAPT, TARDBP

Publications for genes affiliated with Primary Progressive Aphasia

Sources:
35PubMed
See all sources

Articles related to primary progressive aphasia:

idTitleAuthorsYearAffiliating Genes
1Cerebrospinal fluid tau, p-tau 181 and amyloid-I^38/40 /42 in frontotemporal dementias and primary progressive aphasias. (21135556)Bibl M.... Wiltfang J.2011APP, MAPT
2Asymmetric TDP-43 distribution in primary progressive aphasia with progranulin mutation. (20479359)Gliebus G.... Geula C.2010GRN
3The northwestern anagram test: measuring sentence pro duction in primary progressive aphasia. (19700669)Weintraub S.... Thompson C.K.2009TARDBP
4Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations. (17914064)Chen-Plotkin A.S.... Van Deerlin V.M.2008LRRK2
5Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. (17210807)Mesulam M.... Graff-Radford N.R.2007GRN
6Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. (16315279)Li X.... Mastrianni J.A.2005PRNP
7Possible association of the tau H1/H1 genotype with primary progressive aphasia. (12629248)Sobrido M.J.... Geschwind D.H.2003MAPT

Expression for genes affiliated with Primary Progressive Aphasia

Sources:
1BioGPS
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Progressive Aphasia

Pathways for genes affiliated with Primary Progressive Aphasia

Sources:
36QIAGEN, 3Cell Signaling Technology
See all sources

Pathways related to primary progressive aphasia according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Alzheimers Disease Pathway369.3APP, MAPT
2Neuroscience37.8APP, MAPT, LRRK2, TARDBP

Compounds for genes affiliated with Primary Progressive Aphasia

Sources:
32Novoseek , 9DrugBank, 18HMDB, 34PharmGKB
See all sources

Compounds related to primary progressive aphasia according to GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1thioflavin32 9.7APP, MAPT
2thioflavine s32 9.6MAPT, APP
3tacrine32 9 9 11.6APP, MAPT
4memantine32 9 9 11.6APP, MAPT
5donepezil32 9 18 9 12.6MAPT, APP
6galantamine32 34 9 9 12.6MAPT, APP
7guanidine32 9 18 9 12.5MAPT, PRNP
8valproate32 9.5APP, MAPT
9c2ceramide32 9.4APP, MAPT
10ganglioside32 9.3APP, PRNP
114-hydroxynonenal32 18 10.3MAPT, APP
12formate32 9.1APP, PRNP, MAPT
13sodium dodecylsulfate32 9.1MAPT, PRNP, APP
14formaldehyde32 18 10.1APP, PRNP, MAPT
15valine32 9.0MAPT, PRNP, APP
16chloroquine32 34 9 9 12.0APP, MAPT
17aspartate32 8.9PRNP, APP, MAPT
18heparin32 9 18 9 11.8PRNP, MAPT, APP
19dopamine32 9 18 9 11.7APP, MAPT, LRRK2

GO Terms for genes affiliated with Primary Progressive Aphasia

Sources:
12Gene Ontology
See all sources

Cellular components related to primary progressive aphasia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:0432319.0GRN, APP, PRNP

Biological processes related to primary progressive aphasia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:0068789.4APP, PRNP
2axon cargo transportGO:0080889.0APP, MAPT

Molecular functions related to primary progressive aphasia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tubulin bindingGO:0156318.8LRRK2, PRNP
2protein bindingGO:0055157.1GRN, APP, MAPT, LRRK2, TARDBP, PRNP

Sources for Primary Progressive Aphasia

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS