Semantic Dementia

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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.

Genes related to Semantic Dementia

TREM2
CHMP2B
C9orf72
PSEN1
TMEM106B
GRN
MAPT

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Semantic Dementia

Dementia
Neurological speech impairment
Brain atrophy
Aphasia
Dyslexia
Dysgraphia
Abulia
Alexia
Visual agnosia
Anomia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Semantic Dementia Is also known as semantic primary progressive aphasia, semantic variant ppa.

Researches and researchers

Doctors, researchs, and experts related to Semantic Dementia extracted from public data.

Semantic Dementia Experts map

Current Researchs and researchers

BARCELONA — Dr Raquel SÁNCHEZ DEL VALLE DÍAZ
Coordinator of expert centre - Genetic counsellor - Investigator of research project
- Institution/s:
  — Servicio de Neurología, Hospital Clínic de Barcelona
  — Neurociencia clínica y experimental, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
- Research area/topic::
  PreFrontAls: Searching for therapeutic interventions in frontotemporal dementia with C9ORF72 repeat expansions in the presymptomatic stage - ES

Semantic Dementia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dementia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...) View the complete list with 1 more genes Panel complete gene list SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1, PSEN2 Specificity 29 % Genes 86 %
Dystonia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...) View the complete list with 57 more genes Panel complete gene list SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX, SLC19A3, TPK1, TREM2, ARX, RNASEH2A, VPS13A, L2HGDH, THAP1, FA2H, PDHX, ADAR, CP, RNASEH2C, CHMP2B, MMADHC, C19orf12, RNASEH2B, DCAF17, CYP27A1, FOXRED1, DDC, WDR45, DLAT, FASTKD2, EARS2, ATP13A2, DRD2, DRD5, PRRT2, SLC46A1, TOR1A, AFG3L2, SDHAF1, ERCC6, FOXG1, GAMT, GCDH, GCH1, MR1, HPRT1, AP1S2, KCNQ2, MAT1A, ARSA, MPV17, ATM, ATP1A2, ATP1A3, PRKN, ATP7B, AUH, PLP1, PNKD, PSEN1, PTEN, PTS, QDPR Specificity 4 % Genes 43 %
Movement Disorders Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...) View the complete list with 72 more genes Panel complete gene list SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX, SLC19A3, PARK7, TRIM32, TPK1, TREM2, ARX, RNASEH2A, LRRK2, VPS13A, L2HGDH, THAP1, FA2H, PDHX, ADAR, CP, RNASEH2C, CSF1R, CHMP2B, MMADHC, C19orf12, RNASEH2B, DCAF17, CYP27A1, FOXRED1, DCTN1, DDC, WDR45, DLAT, FASTKD2, EARS2, ATP13A2, DRD2, DRD5, PRRT2, SLC46A1, TOR1A, AFG3L2, SDHAF1, ERCC6, FOXG1, FTL, FUCA1, GAMT, GBA, GCDH, GCH1, MR1, HPRT1, AP1S2, KCNQ2, MAPT, MAT1A, ARSA, MPV17, ATM, ATP1A2, ATP1A3, PRKN, ATP7B, KIF1A, AUH, PLA2G6, PLP1, PNKD, POLG, PSEN1, PTEN, PTS, QDPR Specificity 5 % Genes 58 %
TREM2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TREM2 Specificity 100 % Genes 15 %
Nasu-Hakola disease (sequence analysis of TREM2 gene). By CGC Genetics (Portugal). TREM2 Specificity 100 % Genes 15 %
Hereditary dementias (NGS panel for 28 genes). By CGC Genetics (Portugal). SNCA, SNCB, SORL1, TARDBP, TIMM8A, TUBA4A, TYROBP, UBQLN2, VCP, CHCHD10, TREM2, TRPM7, CSF1R, CHMP2B, DNMT1, ATP13A2, FUS, GRN, HNRNPA1, HNRNPA2B1 , (...) View the complete list with 8 more genes Panel complete gene list SNCA, SNCB, SORL1, TARDBP, TIMM8A, TUBA4A, TYROBP, UBQLN2, VCP, CHCHD10, TREM2, TRPM7, CSF1R, CHMP2B, DNMT1, ATP13A2, FUS, GRN, HNRNPA1, HNRNPA2B1, APOE, ITM2B, APP, MAPT, NOTCH3, PRNP, PSEN1, PSEN2 Specificity 18 % Genes 72 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SOD1, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP, OPTN, CDH13, TREM2, CHMP2B, C9orf72, ARHGEF28, FUS, SETX, GRN, ANG, HNRNPA1, HNRNPA2B1, ANXA11 , (...) View the complete list with 5 more genes Panel complete gene list SOD1, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP, OPTN, CDH13, TREM2, CHMP2B, C9orf72, ARHGEF28, FUS, SETX, GRN, ANG, HNRNPA1, HNRNPA2B1, ANXA11, KIF5A, MAPT, PFN1, PSEN1, PSEN2 Specificity 24 % Genes 86 %
TREM2-Related Disorders via TREM2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TREM2 Specificity 100 % Genes 15 %