PPA
MCID: PRM052
MIFTS: 48

Primary Progressive Aphasia (PPA) malady

Neuronal category

Summaries for Primary Progressive Aphasia

Sources:
43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 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). last updated: 8/22/2011

MalaCards: Primary Progressive Aphasia, also known as aphasia, primary progressive, is related to aphasia and frontotemporal dementia. An important gene associated with Primary Progressive Aphasia is GRN (granulin), and among its related pathways are Glypican 1 network and A-beta Uptake & Degradation. The compounds thioflavin and memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, and related mouse phenotypes are other and hematopoietic system.

NINDS:44 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:64 Primary progressive aphasia (PPA) is characterized by progressive language and speech disorders. It was... more...

Description from OMIM:47 607485

Aliases & Classifications for Primary Progressive Aphasia

Sources:
43NIH Rare Diseases, 44NINDS, 49Orphanet, 61UMLS, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
primary progressive aphasia:
Inheritance: Multigenic/multifactorial,Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

primary progressive aphasia 43 44 49 61
aphasia, primary progressive 43 47
ppa 43 49
primary progressive aphasia syndrome 43
aphasia primary progressive 45
mesulam syndrome 49


External Ids:

MESH via Orphanet36 D018888
ICD10 via Orphanet26 G31.0
UMLS via Orphanet62 C0282513

Related Diseases for Primary Progressive Aphasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1aphasia31.9MAPT, GRN, TARDBP
2frontotemporal dementia31.0LRRK2, TARDBP, MAPT, GRN, APOE, APP
3semantic dementia30.8MAPT, GRN
4apraxia30.7MAPT, FOXP2
5alzheimer's disease30.5APP, TOMM40, GRN, MAPT, TARDBP, APOE
6frontotemporal lobar degeneration with ubiquitin-positive inclusions30.5GRN
7progressive supranuclear palsy30.4APOE, MAPT, GRN, TARDBP
8pick's disease30.3APP, APOE, TARDBP, MAPT
9tauopathy30.1MAPT, GRN, LRRK2, APP
10amyloidosis29.9MAPT, PRNP, APOE, APP
11logopenic progressive aphasia10.8
12corticobasal degeneration10.6
13progressive non-fluent aphasia10.3
14transient global amnesia10.2
15dysgraphia10.2
16agnosia10.2
17n syndrome10.1
18ideomotor apraxia10.1
19foix chavany marie syndrome10.1
20variant creutzfeldt-jakob disease10.1
21cerebral atrophy10.1
22lateral sclerosis10.0TARDBP
23genetic prion diseases10.0PRNP
24wilson disease10.0PRNP
25neuroblastoma10.0PRNP
26lrrk2-related parkinson disease10.0LRRK2
27hereditary cerebral amyloid angiopathy10.0APP
28encephalitis10.0APP
29hydrocephalus10.0MAPT
30schizophrenia10.0FOXP2
31scrapie10.0PRNP, MAPT
32speech and communication disorders10.0FOXP2
33myopathy10.0PRNP, APP
34gerstmann-straussler-scheinker disease10.0PRNP, APP
35vascular dementia10.0APOE
36multiple sclerosis10.0APOE
37parkinson disease type 310.0LRRK2, MAPT
38inclusion body myositis10.0APP, MAPT
39niemann-pick disease10.0MAPT, APP
40motor neuron disease10.0MAPT, TARDBP, GRN
41spinocerebellar ataxia10.0PRNP, MAPT
42multiple system atrophy10.0LRRK2, PRNP, MAPT
43ischemia10.0FOXP2, MAPT
44hypertensive retinopathy10.0
45char syndrome10.0
46myositis10.0APP, MAPT, PRNP
47familial creutzfeldt-jakob disease10.0APOE, PRNP
48movement disease10.0MAPT, LRRK2
49brain disease10.0APP, PRNP, MAPT
50huntington's disease10.0PRNP, APP, MAPT

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



Diseases related to primary progressive aphasia

Clinical Features for Primary Progressive Aphasia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

607485

Drugs & Therapeutics for Primary Progressive Aphasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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:
33MalaCards
See all sources

MalaCards organs/tissues related to Primary Progressive Aphasia:

33
Brain, Cortex, Temporal lobe

Animal Models for Primary Progressive Aphasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Primary Progressive Aphasia

Sources:
51PubMed
See all sources

Articles related to Primary Progressive Aphasia:

(show top 50)    (show all 272)
idTitleAuthorsYear
1
Neuropsychiatric symptoms in primary progressive aphasia: phenomenology, pathophysiology, and approach to assessment and treatment. (23997827)
2013
2
Initial neuropsychological profile of a series of 20 patients with logopenic variant of primary progressive aphasia. (23676308)
2013
3
Disruption of structural connectivity along the dorsal and ventral language pathways in patients with nonfluent and semantic variant primary progressive aphasia: a DT MRI study and a literature review. (23890877)
2013
4
Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia. (23904625)
2013
5
A cortical pathway to olfactory naming: evidence from primary progressive aphasia. (23471695)
2013
6
Decreased striatal dopamine transporter uptake in the non-fluent/agrammatic variant of primary progressive aphasia. (23679075)
2013
7
A novel frontal pathway underlies verbal fluency in primary progressive aphasia. (23820597)
2013
8
What Role Does the Anterior Temporal Lobe Play in Sentence-level Processing? Neural Correlates of Syntactic Processing in Semantic Variant Primary Progressive Aphasia. (24345172)
2013
9
Brain atrophy in primary progressive aphasia involves the cholinergic basal forebrain and Ayala's nucleus. (24434193)
2013
10
Behavioural interventions for enhancing life participation in behavioural variant frontotemporal dementia and primary progressive aphasia. (23611353)
2013
11
Memory and Orientation in the Logopenic and Nonfluent Subtypes of Primary Progressive Aphasia. (24321890)
2013
12
PET imaging in a case of the semantic variant of primary progressive aphasia. (23856947)
2013
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
The non-fluent/agrammatic variant of primary progressive aphasia. (22608668)
2012
16
Neural mechanisms of object naming and word comprehension in primary progressive aphasia. (22492040)
2012
17
A case of primary progressive aphasia associated with depression. (22422604)
2012
18
Primary progressive aphasia and transient global amnesia. (22964919)
2012
19
Classification and stratification of primary progressive aphasia: CSF biomarkers as a useful tool? (22665447)
2012
20
Primary progressive aphasia and transient global amnesia. (22410450)
2012
21
Decision making cognition in primary progressive aphasia. (22207422)
2012
22
Classification of primary progressive aphasia and its variants. (21325651)
2011
23
Primary progressive aphasia: defining genetic and pathological subtypes. (21222598)
2011
24
The taxonomy of primary progressive aphasia: it walks and quacks like a duck ... but which duck? (21325654)
2011
25
Primary progressive aphasia in a bilingual speaker: a single-case study. (21631307)
2011
26
Asymmetric TDP-43 distribution in primary progressive aphasia with progranulin mutation. (20479359)
2010
27
Phenomenology and anatomy of abnormal behaviours in primary progressive aphasia. (20400120)
2010
28
Cortical neuroanatomic correlates of symptom severity in primary progressive aphasia. (20660866)
2010
29
Neurology of anomia in the semantic variant of primary progressive aphasia. (19506067)
2009
30
Increased frequency of learning disability in patients with primary progressive aphasia and their first-degree relatives. (18268195)
2008
31
Primary progressive aphasia: a case report. (17965034)
2007
32
Right hemisphere involvement in non-fluent primary progressive aphasia. (18430983)
2007
33
Argyrophilic thorny astrocyte clusters in association with Alzheimer's disease pathology in possible primary progressive aphasia. (17637999)
2007
34
Altered effective connectivity within the language network in primary progressive aphasia. (17287508)
2007
35
A case study of Primary Progressive Aphasia: improvement on verbs after rTMS treatment. (17182394)
2006
36
Different patterns of Mini Mental Status Examination responses in primary progressive aphasia and Alzheimer's disease. (16987166)
2006
37
Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. (16315279)
2005
38
Semantic dementia and primary progressive aphasia: a problem of categorization? (16317259)
2005
39
Emotional prosody in primary progressive aphasia. (15249645)
2004
40
Cognition and anatomy in three variants of primary progressive aphasia. (14991811)
2004
41
Patterns of limb apraxia in primary progressive aphasia. (14607191)
2003
42
Axonal injury within language network in primary progressive aphasia. (12557292)
2003
43
Primary progressive aphasia as the initial manifestation of corticobasal degeneration and unusual tauopathies. (12955398)
2003
44
Primary progressive aphasia: PPA and the language network. (12509846)
2003
45
Modality-specific deterioration in naming verbs in nonfluent primary progressive aphasia. (12419132)
2002
46
Primary progressive aphasia: a review of the neurobiology of a common presentation of Pick complex. (11831418)
2002
47
Primary progressive aphasia with focal glial tauopathy. (11054189)
2000
48
Primary progressive aphasia presenting as conduction aphasia. (10521554)
1999
49
The neuropsychological signature of primary progressive aphasia. (10534372)
1999
50
Primary progressive aphasia. An uncommon masquerader of psychiatric disorders. (8171172)
1994

Genetic Variations for Primary Progressive Aphasia

Expression for genes affiliated with Primary Progressive Aphasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Progressive Aphasia

Search GEO for disease gene expression data for Primary Progressive Aphasia.

Pathways for genes affiliated with Primary Progressive Aphasia

Sources:
38NCBI BioSystems Database, 53R&D Systems, 50PharmGKB, 52QIAGEN, 54Reactome, 30KEGG, 4Cell Signaling Technology
See all sources

Compounds for genes affiliated with Primary Progressive Aphasia

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

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

(show all 37)
idCompoundScoreTop Affiliating Genes
1thioflavin4510.0MAPT, APP
2memantine45 29 1111.9MAPT, APP
3tmao459.8MAPT, APOC1
4metrifonate459.6APOE, APP
524s-hydroxy-cholesterol459.5APP, APOE
6thioflavin t459.5APP, APOE
7formaldehyde45 2410.5MAPT, PRNP, APP
8guanidine45 11 2411.3MAPT, PRNP, APOE
9dimyristoylphosphatidylcholine459.2APOC1, APOE
10thioflavine s459.2APP, APOE, MAPT
11tacrine45 1110.2APP, APOE, MAPT
12donepezil45 11 2411.2MAPT, APOE, APP
13galantamine45 50 1111.2APP, APOE, MAPT
144-hydroxynonenal45 2410.1MAPT, APOE, APP
15chloroquine45 2 50 29 1113.1APP, APOE, MAPT
16lactacystin459.1MAPT, APOE, APP
17spec-t458.9MAPT, APOE
18folate458.9APP, APOE, MAPT
19antivirals for treatment of hiv infections, combinations508.9TOMM40, APOC1, APOE
20nicotine45 50 29 1111.9MAPT, APOE, APP
21ritonavir45 50 1110.9APOE, APOC1, TOMM40
22formate458.9MAPT, PRNP, APOE, APP
23valine458.9APP, APOE, PRNP, MAPT
24nmda45 299.8MAPT, APOE, APP
25aspartate458.7APP, APOE, PRNP, MAPT
26heparin45 29 11 2411.7APP, APOE, PRNP, MAPT
27dopamine45 29 11 2411.7LRRK2, MAPT, APOE, APP
28glutamine458.6MAPT, FOXP2, APOE, APP
29h2o2458.5APP, APOE, PRNP, MAPT
30vegf458.4GRN, FOXP2, APOE, APP
31arginine458.4APP, APOE, PRNP, MAPT
32glutamate458.3APP, APOE, FOXP2, PRNP, MAPT
33sodium dodecylsulfate458.3MAPT, PRNP, APOC1, APOE, APP
34cholesterol45 29 11 2411.1APP, APOE, APOC1, TOMM40, PRNP
35estrogen458.1APOE, APOC1, FOXP2, GRN, MAPT
36lipid457.7LRRK2, PRNP, TOMM40, APOC1, APOE, APP
37alanine457.7APP, APOE, APOC1, FOXP2, PRNP, MAPT

GO Terms for genes affiliated with Primary Progressive Aphasia

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:0343649.0APOC1, APOE
2chylomicronGO:0426278.9APOC1, APOE
3very-low-density lipoprotein particleGO:0343618.7APOC1, APOE

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:0068789.8PRNP, APP
2axon cargo transportGO:0080889.8APP, MAPT
3response to oxidative stressGO:0069799.5LRRK2, PRNP, APP
4very-low-density lipoprotein particle clearanceGO:0344479.3APOC1, APOE
5positive regulation of axon extensionGO:0457739.3MAPT, APOE
6chylomicron remnant clearanceGO:0343829.3APOC1, APOE
7positive regulation of cholesterol esterificationGO:0108739.3APOE, APOC1
8phospholipid effluxGO:0337009.2APOE, APOC1
9high-density lipoprotein particle remodelingGO:0343759.1APOC1, APOE
10lipoprotein metabolic processGO:0421579.0APOC1, APOE
11cell deathGO:0082199.0APOE, GRN, TARDBP
12cholesterol effluxGO:0333448.9APOC1, APOE
13cholesterol metabolic processGO:0082038.8APOC1, APOE, APP
14triglyceride metabolic processGO:0066418.7APOC1, APOE

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

idNameGO IDScoreTop Affiliating Genes
1tubulin bindingGO:0156319.8LRRK2, PRNP
2lipoprotein particle bindingGO:0718139.1APOE, MAPT
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602288.7APOE, APOC1
4identical protein bindingGO:0428028.2LRRK2, TARDBP, PRNP, APOE, APP

Products for genes affiliated with Primary Progressive Aphasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Progressive Aphasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet