MCID: SMN008
MIFTS: 47

Semantic Dementia

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Semantic Dementia

MalaCards integrated aliases for Semantic Dementia:

Name: Semantic Dementia 52 53 58 54 71
Semantic Primary Progressive Aphasia 52 58
Semantic Variant Ppa 52 58
Dementia - Semantic 53

Characteristics:

Orphanet epidemiological data:

58
semantic dementia
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G31.0
UMLS via Orphanet 72 C0338462
Orphanet 58 ORPHA100069
UMLS 71 C0338462

Summaries for Semantic Dementia

NINDS : 53 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.  The current designation of the syndrome groups together Pick’s disease, primary progressive aphasia, and semantic dementia as FTD.  Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex.  These designations will continue to be debated.  As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language.  The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation.  The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral type’s symptoms.  Spatial skills and memory remain intact.  There is a strong genetic component to the disease; FTD often runs in families.

MalaCards based summary : Semantic Dementia, also known as semantic primary progressive aphasia, is related to frontotemporal lobar degeneration with tdp43 inclusions, grn-related and prosopagnosia. An important gene associated with Semantic Dementia is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Neuroscience and Alzheimers Disease. The drugs Memantine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and testes, and related phenotypes are aphasia and brain atrophy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100069 Definition Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. Visit the Orphanet disease page for more resources.

Wikipedia : 74 Semantic dementia (SD), also known as semantic variant primary progressive aphasia (svPPA), is a... more...

Related Diseases for Semantic Dementia

Diseases related to Semantic Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 32.7 RPS27A MAPT GRN
2 prosopagnosia 30.9 TARDBP MAPT GRN
3 amnestic disorder 30.8 PSEN1 MAPT APOE
4 alexia 30.6 MAPT GRN APOE
5 posterior cortical atrophy 30.4 MAPT APOE
6 corticobasal degeneration 30.4 TARDBP RPS27A MAPT
7 anosognosia 30.2 C9orf72 APOE
8 echolalia 30.2 MAPT GRN
9 lateral sclerosis 30.1 TARDBP CHMP2B C9orf72
10 vascular dementia 30.0 PSEN1 MAPT APOE
11 agraphia 29.8 TARDBP MAPT GRN C9orf72
12 nominal aphasia 29.7 TARDBP MAPT GRN CHMP2B C9orf72 APOE
13 dyscalculia 29.7 TARDBP GRN CHMP2B
14 dysgraphia 29.5 TARDBP MAPT GRN CHMP2B C9orf72
15 apraxia 29.5 PSEN1 MAPT GRN C9orf72 APOE
16 movement disease 29.5 TARDBP MAPT GRN C9orf72
17 motor neuron disease 29.4 TARDBP RPS27A MAPT GRN C9orf72 APOE
18 associative agnosia 29.3 TARDBP MAPT GRN CHMP2B C9orf72
19 alzheimer disease 28.8 TREM2 TARDBP RPS27A PSEN1 MAPT GRN
20 aphasia 28.8 TMEM106B TARDBP PSEN1 MAPT GRN CHMP2B
21 pick disease of brain 28.8 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
22 frontotemporal dementia 28.6 TREM2 TMEM106B TARDBP RPS27A PSEN1 PCBP2
23 progressive non-fluent aphasia 27.8 TREM2 TMEM106B PSEN1 MAPT GRN CHMP2B
24 dementia 27.8 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
25 speech and communication disorders 27.4 TMEM106B TARDBP PSEN1 MAPT GRN CHMP2B
26 amyotrophic lateral sclerosis 1 26.4 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
27 supranuclear palsy, progressive, 1 26.3 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
28 dyslexia 10.5
29 gerstmann syndrome 10.3 MAPT APOE
30 simultanagnosia 10.3 MAPT APOE
31 alzheimer disease 10 10.3 MAPT APOE
32 cerebral atrophy 10.3
33 age-related hearing loss 10.3 MAPT APOE
34 binswanger's disease 10.3 MAPT APOE
35 akinetic mutism 10.3 TARDBP MAPT
36 postencephalitic parkinson disease 10.3 TARDBP MAPT
37 alzheimer disease mitochondrial 10.2 MAPT APOE
38 kohlschutter-tonz syndrome 10.2 PSEN1 MAPT
39 agnosia 10.2
40 alzheimer disease 3 10.2 PSEN1 APOE
41 spinal muscular atrophy type 0 10.2 RPS27A MAPT
42 cerebral cortical dysplasia 10.2 RPS27A MAPT
43 amyotrophic lateral sclerosis type 22 10.2 TARDBP C9orf72
44 retrograde amnesia 10.2
45 herpes simplex encephalitis 10.2
46 alzheimer disease 9 10.2 PSEN1 MAPT
47 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.2 TARDBP C9orf72
48 alzheimer disease 4 10.2 PSEN1 APOE
49 pseudobulbar palsy 10.1 TARDBP C9orf72
50 alzheimer disease 2 10.1 PSEN1 MAPT APOE

Graphical network of the top 20 diseases related to Semantic Dementia:



Diseases related to Semantic Dementia

Symptoms & Phenotypes for Semantic Dementia

Human phenotypes related to Semantic Dementia:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
2 brain atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0012444
3 visual agnosia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030222
4 anomia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030784
5 dysgraphia 58 31 frequent (33%) Frequent (79-30%) HP:0010526
6 dyslexia 58 31 frequent (33%) Frequent (79-30%) HP:0010522
7 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
8 alexia 58 31 frequent (33%) Frequent (79-30%) HP:0010523
9 abulia 58 31 frequent (33%) Frequent (79-30%) HP:0012671
10 neurological speech impairment 58 Frequent (79-30%)
11 abnormal test result 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Semantic Dementia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.92 APOE C9orf72 GRN MAPT PCBP2 PSEN1
2 hematopoietic system MP:0005397 9.86 APOE C9orf72 GRN MAPT PCBP2 PSEN1
3 homeostasis/metabolism MP:0005376 9.81 APOE C9orf72 GRN MAPT PCBP2 PSEN1
4 nervous system MP:0003631 9.56 APOE C9orf72 CHMP2B GRN MAPT PSEN1
5 no phenotypic analysis MP:0003012 9.1 APOE C9orf72 GRN MAPT TARDBP TREM2

Drugs & Therapeutics for Semantic Dementia

Drugs for Semantic Dementia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3 Excitatory Amino Acid Antagonists Phase 4
4 Antiparkinson Agents Phase 4
5 Dopamine Agents Phase 4
6 Neurotransmitter Agents Phase 4
7
Zinc Approved, Investigational Phase 2 7440-66-6 32051
8 Hypoglycemic Agents Phase 2
9 insulin Phase 2
10 Insulin, Globin Zinc Phase 2

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
2 Double-blind, Parallel Group, Placebo-controlled Trial of the Efficacy and Tolerability of Memantine (20 mg) in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
3 A Single Center Feasibility Study of Intranasal Insulin in Frontotemporal Dementia NIFT-D Recruiting NCT04115384 Phase 2 Novolin-R insulin
4 Phase 1 Study to Evaluate the Efficacy of Using Energy Specific Far Infrared Radiation Treatment for Dementia and Other Related Mental Illness. Unknown status NCT00574054 Phase 1
5 Social Cognition in Ageing and in Frontotemporal Lobar Degeneration (Frontotemporal Dementia and Semantic Dementia): a Cognitive and Neuroimaging Study Unknown status NCT01962064
6 Evaluation and Characterization of Behavioural Disorders and Dementias by the Behavioural Dysexecutive Syndrome Inventory (BDSI) Unknown status NCT02819700
7 Linguistic, Anatomic/Metabolic and Biologic Characterisation of the Three Main Variants of Primary Progressive Aphasia : Towards the Rationale for Drug Trials and Specific Language Rehabilitations Unknown status NCT02297035
8 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
9 Slowing Language Decline in Progressive Aphasia Through Language Rehabilitation: Treatment and Neuroimaging Study Completed NCT00957710
10 Study of MRI 3 Tesla Using Arterial Spin Labeling (Without Infusion) in Cognitive Atypical Disorders and Comparison to FDG-PET Completed NCT02058043
11 Language in Primary Progressive Aphasia Recruiting NCT00537004
12 Optimization of Electrical Stimulation Approaches in Three Primary Progressive Aphasia Variants Recruiting NCT03887481
13 Assessing Changes in Social Cognition and Personality in Patients With Frontotemporal Lobar Degeneration, Alzheimer's Disease and Parkinson's Disease and Their Effect on the Patient-caregiver Relationship Recruiting NCT02964611
14 Multidisciplinary and Personalized Care of Behavioral Disorders in Frontotemporal Lobar Degeneration. Recruiting NCT03606798
15 Investigation of the Therapeutic Value of Transcranial Stimulation With Direct Current on Language Disorders in Semantic Dementia Recruiting NCT03481933
16 The Neural Basis for Frontotemporal Degeneration Active, not recruiting NCT03452956

Search NIH Clinical Center for Semantic Dementia

Genetic Tests for Semantic Dementia

Anatomical Context for Semantic Dementia

MalaCards organs/tissues related to Semantic Dementia:

40
Temporal Lobe, Brain, Testes, Cortex, Prefrontal Cortex, Caudate Nucleus, Amygdala

Publications for Semantic Dementia

Articles related to Semantic Dementia:

(show top 50) (show all 1062)
# Title Authors PMID Year
1
Phenomenology and anatomy of abnormal behaviours in primary progressive aphasia. 54 61
20400120 2010
2
Frontotemporal lobar degeneration with ubiquitin pathology: an autopsy case presenting with semantic dementia and upper motor neuron signs with a clinical course of 19 years. 61 54
17016698 2006
3
Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation. 54 61
16222525 2005
4
Tau protein in cerebrospinal fluid from semantic dementia patients. 61 54
11072138 2000
5
Longitudinal flortaucipir ([18F]AV-1451) PET uptake in semantic dementia. 61
32417749 2020
6
Classification of general and personal semantic details in the Autobiographical Interview. 61
32445644 2020
7
The White Matter Module-Hub Network of Semantics Revealed by Semantic Dementia. 61
32083520 2020
8
A snake that bites its own tail. Acquisition and loss of concepts in children and semantic dementia patients through the analysis of drawings. 61
32361266 2020
9
Spectrum of Frontotemporal Lobar Degeneration on 18F-FDG PET/CT Scan. 61
32453084 2020
10
The effect of semantic memory degeneration on creative thinking: A voxel-based morphometry analysis. 61
32574802 2020
11
[Coping and Supporting Patients and Families of Frontotemporal Lobar Degeneration]. 61
32507760 2020
12
Clinical Features of Late-onset Semantic Dementia. 61
32496297 2020
13
[Frontotemporal Lobar Degeneration: A Historical Overview of the Concept]. 61
32507755 2020
14
White matter networks dissociate semantic control from semantic knowledge representations: Evidence from voxel-based lesion-symptom mapping. 61
32529964 2020
15
[Evaluation of Semantic Dementia Patient]. 61
32507758 2020
16
A unified neurocognitive model of semantics language social behaviour and face recognition in semantic dementia. 61
32444620 2020
17
Normative brain volume reports may improve differential diagnosis of dementing neurodegenerative diseases in clinical practice. 61
32002640 2020
18
Anterior temporal lobe is necessary for efficient lateralised processing of spoken word identity. 61
32065956 2020
19
Cerebellar structural connectivity and contributions to cognition in frontotemporal dementias. 61
32428762 2020
20
White matter basis for the hub-and-spoke semantic representation: evidence from semantic dementia. 61
32155237 2020
21
Overreliance on thematic knowledge in semantic dementia: Evidence from an eye-tracking paradigm. 61
31944788 2020
22
The interplay between control processes and feature relevance: Evidence from dual-task methodology. 61
31476964 2020
23
Striking loss of second language in bilingual patients with semantic dementia. 61
31705289 2020
24
A case of TDP-43 type C pathology presenting as nonfluent variant primary progressive aphasia. 61
31747857 2020
25
Western Aphasia Battery-Revised Profiles in Primary Progressive Aphasia and Primary Progressive Apraxia of Speech. 61
31639312 2020
26
Impact of brain atrophy on tDCS and HD-tDCS current flow: a modeling study in three variants of primary progressive aphasia. 61
32040791 2020
27
A modified Camel and Cactus Test detects presymptomatic semantic impairment in genetic frontotemporal dementia within the GENFI cohort. 61
32024404 2020
28
Altered Time Awareness in Dementia. 61
32373055 2020
29
Classification of primary progressive aphasia: challenges and complexities. 61
32047619 2020
30
Evaluating the distinction between semantic knowledge and semantic access: Evidence from semantic dementia and comprehension-impaired stroke aphasia. 61
31993976 2020
31
The other side of the coin: Semantic dementia as a lesion model for understanding recollection and familiarity. 61
31896362 2020
32
Time reference, morphology and prototypicality: tense production in stroke aphasia and semantic dementia in Greek. 61
31818150 2019
33
The Cerebellum in Frontotemporal Dementia: a Meta-Analysis of Neuroimaging Studies. 61
31428914 2019
34
Naming and conceptual understanding in frontotemporal dementia. 61
31220614 2019
35
[Amyotrophic Lateral Sclerosis and Frontotemporal Dementia]. 61
31722308 2019
36
Emergence of artistic talent in progressive nonfluent aphasia: a case report. 61
30780199 2019
37
Testing the therapeutic effects of transcranial direct current stimulation (tDCS) in semantic dementia: a double blind, sham controlled, randomized clinical trial. 61
31747967 2019
38
Avian agnosia: A window into auditory semantics. 61
31593713 2019
39
Identification of taxonomic and thematic relationships: Do the two semantic systems have the same status in semantic dementia? 61
31305211 2019
40
Neural substrates of amodal and modality-specific semantic processing within the temporal lobe: A lesion-behavior mapping study of semantic dementia. 61
31280071 2019
41
A structural connectivity convergence zone in the ventral and anterior temporal lobes: Data-driven evidence from structural imaging. 61
31377672 2019
42
Divergent effects of healthy ageing on semantic knowledge and control: Evidence from novel comparisons with semantically impaired patients. 61
29667366 2019
43
Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia. 61
31123142 2019
44
Semantic deficits in ALS related to right lingual/fusiform gyrus network involvement. 61
31492562 2019
45
"All is not lost"-Rethinking the nature of memory and the self in dementia. 61
31238174 2019
46
External details revisited - A new taxonomy for coding 'non-episodic' content during autobiographical memory retrieval. 61
29693311 2019
47
Profiling sentence repetition deficits in primary progressive aphasia and Alzheimer's disease: Error patterns and association with digit span. 61
30953862 2019
48
A case of progressive non-fluent aphasia as onset of amyotrophic lateral sclerosis with frontotemporal dementia. 61
30146930 2019
49
Neuropsychological differentiation of progressive aphasic disorders. 61
29424041 2019
50
Sustained attention failures on a 3-min reaction time task is a sensitive marker of dementia. 61
30834482 2019

Variations for Semantic Dementia

Expression for Semantic Dementia

Search GEO for disease gene expression data for Semantic Dementia.

Pathways for Semantic Dementia

Pathways related to Semantic Dementia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.63 TREM2 TARDBP RPS27A PSEN1 MAPT APOE
2 11.51 PSEN1 MAPT APOE
3 10.79 PSEN1 MAPT APOE

GO Terms for Semantic Dementia

Cellular components related to Semantic Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.1 TREM2 TMEM106B RPS27A PSEN1 PCBP2 MAPT
2 cell GO:0005623 9.77 PSEN1 MAPT GRN CHMP2B APOE
3 dendrite GO:0030425 9.62 PSEN1 MAPT C9orf72 APOE
4 lysosome GO:0005764 9.46 TMEM106B GRN CHMP2B C9orf72
5 growth cone GO:0030426 9.43 PSEN1 MAPT C9orf72
6 endosome GO:0005768 9.35 TMEM106B PSEN1 GRN CHMP2B C9orf72
7 main axon GO:0044304 8.62 MAPT C9orf72

Biological processes related to Semantic Dementia according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.78 TREM2 PSEN1 PCBP2 APOE
2 cellular protein metabolic process GO:0044267 9.77 RPS27A PSEN1 APOE
3 autophagy GO:0006914 9.74 PSEN1 CHMP2B C9orf72
4 negative regulation of gene expression GO:0010629 9.71 TARDBP PSEN1 MAPT APOE
5 negative regulation of neuron apoptotic process GO:0043524 9.69 PSEN1 GRN APOE
6 positive regulation of protein import into nucleus GO:0042307 9.62 TARDBP PSEN1
7 lysosome organization GO:0007040 9.61 TMEM106B GRN
8 regulation of RNA metabolic process GO:0051252 9.61 TARDBP PCBP2
9 gene expression GO:0010467 9.59 TARDBP APOE
10 viral life cycle GO:0019058 9.58 RPS27A CHMP2B
11 microglial cell activation GO:0001774 9.58 TREM2 MAPT
12 positive regulation of dendritic spine development GO:0060999 9.56 PSEN1 APOE
13 regulation of innate immune response GO:0045088 9.55 TREM2 APOE
14 stress granule assembly GO:0034063 9.54 MAPT C9orf72
15 negative regulation of protein phosphorylation GO:0001933 9.54 TARDBP PSEN1 C9orf72
16 lysosomal transport GO:0007041 9.52 TMEM106B GRN
17 virion assembly GO:0019068 9.49 RPS27A APOE
18 amyloid precursor protein metabolic process GO:0042982 9.46 PSEN1 APOE
19 regulation of resting membrane potential GO:0060075 9.43 TREM2 PSEN1
20 positive regulation of amyloid-beta clearance GO:1900223 9.32 TREM2 APOE
21 positive regulation of amyloid fibril formation GO:1905908 9.26 PSEN1 APOE
22 microglial cell activation involved in immune response GO:0002282 9.16 TREM2 GRN
23 astrocyte activation involved in immune response GO:0002265 8.96 PSEN1 GRN
24 astrocyte activation GO:0048143 8.8 TREM2 PSEN1 MAPT

Molecular functions related to Semantic Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.9 TREM2 TMEM106B TARDBP RPS27A PSEN1 PCBP2
2 apolipoprotein binding GO:0034185 8.96 TREM2 MAPT
3 lipoprotein particle binding GO:0071813 8.8 TREM2 MAPT APOE

Sources for Semantic Dementia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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