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 alexia. An important gene associated with Semantic Dementia is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Neuroscience and Alzheimers Disease Pathway. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and cortex, and related phenotypes are brain atrophy and aphasia

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 122)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 32.7 RPS27A MAPT GRN
2 alexia 30.6 MAPT GRN APOE
3 amnestic disorder 30.5 PSEN1 APOE
4 posterior cortical atrophy 30.4 MAPT APOE
5 corticobasal degeneration 30.4 TARDBP RPS27A MAPT
6 binswanger's disease 30.2 MAPT APOE
7 anosognosia 30.2 C9orf72 APOE
8 lateral sclerosis 30.1 TARDBP CHMP2B C9orf72
9 vascular dementia 30.0 PSEN1 MAPT APOE
10 movement disease 29.8 TARDBP MAPT C9orf72
11 prosopagnosia 29.8 TARDBP MAPT GRN CHMP2B C9orf72
12 agraphia 29.8 TARDBP MAPT GRN C9orf72
13 echolalia 29.8 MAPT GRN C9orf72
14 nominal aphasia 29.7 TARDBP MAPT GRN CHMP2B C9orf72 APOE
15 dyscalculia 29.7 TARDBP GRN CHMP2B
16 dysgraphia 29.5 TARDBP MAPT GRN CHMP2B C9orf72
17 apraxia 29.5 PSEN1 MAPT GRN C9orf72 APOE
18 motor neuron disease 29.3 TARDBP RPS27A MAPT GRN C9orf72 APOE
19 associative agnosia 29.3 TARDBP MAPT GRN CHMP2B C9orf72
20 aphasia 28.8 TMEM106B TARDBP PSEN1 MAPT GRN CHMP2B
21 pick disease of brain 28.7 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
22 frontotemporal dementia 28.6 TREM2 TMEM106B TARDBP RPS27A PSEN1 PCBP2
23 alzheimer disease 28.3 TREM2 TARDBP RPS27A PSEN1 MAPT GRN
24 speech and communication disorders 28.1 TARDBP PSEN1 MAPT GRN CHMP2B C9orf72
25 progressive non-fluent aphasia 27.8 TREM2 TMEM106B PSEN1 MAPT GRN CHMP2B
26 dementia 27.7 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
27 amyotrophic lateral sclerosis 1 26.7 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
28 supranuclear palsy, progressive, 1 26.2 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
29 dyslexia 10.5
30 simultanagnosia 10.3 MAPT APOE
31 cerebral atrophy 10.3
32 akinetic mutism 10.3 TARDBP MAPT
33 postencephalitic parkinson disease 10.3 TARDBP MAPT
34 agnosia 10.2
35 alzheimer disease 3 10.2 PSEN1 APOE
36 brain injury 10.2 MAPT APOE
37 cerebral cortical dysplasia 10.2 RPS27A MAPT
38 retrograde amnesia 10.2
39 herpes simplex encephalitis 10.2
40 progressive bulbar palsy 10.2 TARDBP C9orf72
41 amyotrophic lateral sclerosis 19 10.1 TARDBP C9orf72
42 gerstmann syndrome 10.1 PSEN1 MAPT APOE
43 kohlschutter-tonz syndrome 10.1 PSEN1 MAPT APOE
44 neuronal intranuclear inclusion disease 10.1 RPS27A MAPT
45 alzheimer disease 2 10.1 PSEN1 MAPT APOE
46 cerebral amyloid angiopathy, app-related 10.1 PSEN1 MAPT APOE
47 alzheimer disease 4 10.1 PSEN1 MAPT APOE
48 communicating hydrocephalus 10.1 PSEN1 MAPT APOE
49 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.1 TARDBP C9orf72
50 herpes simplex 10.1

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 brain atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0012444
2 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
3 anomia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030784
4 visual agnosia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030222
5 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
6 dyslexia 58 31 frequent (33%) Frequent (79-30%) HP:0010522
7 dysgraphia 58 31 frequent (33%) Frequent (79-30%) HP:0010526
8 abulia 58 31 frequent (33%) Frequent (79-30%) HP:0012671
9 alexia 58 31 frequent (33%) Frequent (79-30%) HP:0010523
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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3 Neurotransmitter Agents Phase 4
4 Dopamine Agents Phase 4
5 Antiparkinson Agents Phase 4
6 Excitatory Amino Acid Antagonists Phase 4
7 Excitatory Amino Acids Phase 4
8
Zinc Approved, Investigational Phase 2 7440-66-6 32051
9 insulin Phase 2
10 Hypoglycemic Agents Phase 2
11 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 The Neural Basis for Frontotemporal Degeneration Recruiting NCT03452956
15 Multidisciplinary and Personalized Care of Behavioral Disorders in Frontotemporal Lobar Degeneration. Recruiting NCT03606798
16 Investigation of the Therapeutic Value of Transcranial Stimulation With Direct Current on Language Disorders in Semantic Dementia Not yet recruiting NCT03481933

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, Cortex, Testes, Prefrontal Cortex, Caudate Nucleus, Amygdala

Publications for Semantic Dementia

Articles related to Semantic Dementia:

(show top 50) (show all 1044)
# 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. 54 61
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. 54 61
11072138 2000
5
Striking loss of second language in bilingual patients with semantic dementia. 61
31705289 2020
6
A modified Camel and Cactus Test detects presymptomatic semantic impairment in genetic frontotemporal dementia within the GENFI cohort. 61
32024404 2020
7
A case of TDP-43 type C pathology presenting as nonfluent variant primary progressive aphasia. 61
31747857 2020
8
Normative brain volume reports may improve differential diagnosis of dementing neurodegenerative diseases in clinical practice. 61
32002640 2020
9
Evaluating the distinction between semantic knowledge and semantic access: Evidence from semantic dementia and comprehension-impaired stroke aphasia. 61
31993976 2020
10
Overreliance on thematic knowledge in semantic dementia: Evidence from an eye-tracking paradigm. 61
31944788 2020
11
The other side of the coin: Semantic dementia as a lesion model for understanding recollection and familiarity. 61
31896362 2020
12
Time reference, morphology and prototypicality: tense production in stroke aphasia and semantic dementia in Greek. 61
31818150 2019
13
The Cerebellum in Frontotemporal Dementia: a Meta-Analysis of Neuroimaging Studies. 61
31428914 2019
14
Naming and conceptual understanding in frontotemporal dementia. 61
31220614 2019
15
[Amyotrophic Lateral Sclerosis and Frontotemporal Dementia]. 61
31722308 2019
16
Emergence of artistic talent in progressive nonfluent aphasia: a case report. 61
30780199 2019
17
Identification of taxonomic and thematic relationships: Do the two semantic systems have the same status in semantic dementia? 61
31305211 2019
18
Neural substrates of amodal and modality-specific semantic processing within the temporal lobe: A lesion-behavior mapping study of semantic dementia. 61
31280071 2019
19
A structural connectivity convergence zone in the ventral and anterior temporal lobes: Data-driven evidence from structural imaging. 61
31377672 2019
20
Avian agnosia: A window into auditory semantics. 61
31593713 2019
21
Testing the therapeutic effects of transcranial direct current stimulation (tDCS) in semantic dementia: a double blind, sham controlled, randomized clinical trial. 61
31747967 2019
22
Western Aphasia Battery-Revised Profiles in Primary Progressive Aphasia and Primary Progressive Apraxia of Speech. 61
31639312 2019
23
"All is not lost"-Rethinking the nature of memory and the self in dementia. 61
31238174 2019
24
Semantic deficits in ALS related to right lingual/fusiform gyrus network involvement. 61
31492562 2019
25
The interplay between control processes and feature relevance: Evidence from dual-task methodology. 61
31476964 2019
26
Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia. 61
31123142 2019
27
External details revisited - A new taxonomy for coding 'non-episodic' content during autobiographical memory retrieval. 61
29693311 2019
28
Divergent effects of healthy ageing on semantic knowledge and control: Evidence from novel comparisons with semantically impaired patients. 61
29667366 2019
29
A case of progressive non-fluent aphasia as onset of amyotrophic lateral sclerosis with frontotemporal dementia. 61
30146930 2019
30
Profiling sentence repetition deficits in primary progressive aphasia and Alzheimer's disease: Error patterns and association with digit span. 61
30953862 2019
31
Neuropsychological differentiation of progressive aphasic disorders. 61
29424041 2019
32
Sustained attention failures on a 3-min reaction time task is a sensitive marker of dementia. 61
30834482 2019
33
The - weak - role of memory in tool use: Evidence from neurodegenerative diseases. 61
30902650 2019
34
A 5-year longitudinal evaluation in patients with mild cognitive impairment by 11C-PIB PET/CT: a visual analysis. 61
30973840 2019
35
Distinct Interplay Between Atrophy and Hypometabolism in Alzheimer's Versus Semantic Dementia. 61
29668866 2019
36
Primary progressive aphasia and the FTD-MND spectrum disorders: clinical, pathological, and neuroimaging correlates. 61
30668155 2019
37
Segmentation of medial temporal subregions reveals early right-sided involvement in semantic variant PPA. 61
31077248 2019
38
Clinical and neuroimaging investigations of language disturbance in frontotemporal dementia-motor neuron disease patients. 61
30707358 2019
39
Olfactory impairment in frontotemporal dementia: A systematic review and meta-analysis. 61
31285789 2019
40
Atypical globular glial tauopathy with a combination of types I and II pathology. 61
30723950 2019
41
Distinctive semantic features in the healthy adult brain. 61
30426310 2019
42
18F-flortaucipir uptake patterns in clinical subtypes of primary progressive aphasia. 61
30594046 2019
43
Primary Progressive Aphasias and Apraxia of Speech. 61
30707189 2019
44
Differences in gray and white matter 18F-THK5351 uptake between behavioral-variant frontotemporal dementia and other dementias. 61
30109402 2019
45
Swedish Version of the Hayling Test: Clinical Utility in Frontotemporal Dementia Syndromes. 61
30501659 2019
46
Facial expressiveness and physiological arousal in frontotemporal dementia: Phenotypic clinical profiles and neural correlates. 61
30488224 2019
47
Cognitive and Behavioral Profiles of Left and Right Semantic Dementia: Differential Diagnosis with Behavioral Variant Frontotemporal Dementia and Alzheimer's Disease. 61
31683488 2019
48
Neuroimaging in aging and neurologic diseases. 61
31753134 2019
49
Machine learning based hierarchical classification of frontotemporal dementia and Alzheimer's disease. 61
30981204 2019
50
Gogi (Word Meaning) Aphasia and Its Relation with Semantic Dementia. 61
31220829 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 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 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.78 TREM2 PSEN1 APOE
2 cellular protein metabolic process GO:0044267 9.76 RPS27A PSEN1 APOE
3 autophagy GO:0006914 9.73 PSEN1 CHMP2B C9orf72
4 negative regulation of neuron apoptotic process GO:0043524 9.7 PSEN1 GRN APOE
5 negative regulation of gene expression GO:0010629 9.67 TARDBP PSEN1 MAPT APOE
6 lysosome organization GO:0007040 9.6 TMEM106B GRN
7 positive regulation of protein import into nucleus GO:0042307 9.59 TARDBP PSEN1
8 viral life cycle GO:0019058 9.58 RPS27A CHMP2B
9 negative regulation of protein phosphorylation GO:0001933 9.58 TARDBP PSEN1 C9orf72
10 microglial cell activation GO:0001774 9.57 TREM2 MAPT
11 positive regulation of dendritic spine development GO:0060999 9.55 PSEN1 APOE
12 regulation of innate immune response GO:0045088 9.54 TREM2 APOE
13 lysosomal transport GO:0007041 9.51 TMEM106B GRN
14 stress granule assembly GO:0034063 9.49 MAPT C9orf72
15 virion assembly GO:0019068 9.48 RPS27A APOE
16 amyloid precursor protein metabolic process GO:0042982 9.46 PSEN1 APOE
17 regulation of resting membrane potential GO:0060075 9.43 TREM2 PSEN1
18 positive regulation of amyloid-beta clearance GO:1900223 9.32 TREM2 APOE
19 positive regulation of amyloid fibril formation GO:1905908 9.26 PSEN1 APOE
20 microglial cell activation involved in immune response GO:0002282 9.16 TREM2 GRN
21 astrocyte activation involved in immune response GO:0002265 8.96 PSEN1 GRN
22 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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