Frontotemporal Lobar Degeneration

Frontotemporal lobar degeneration (FTLD) is a pathological process that occurs in frontotemporal dementia.

It is characterized by atrophy in the frontal lobe and temporal lobe of the brain, with sparing of the parietal and occipital lobes. Common proteinopathies that are found in FTLD include the accumulation of tau proteins and TARDBPs. Mutations in the C9orf72 gene have been established as a major genetic contribution of FTLD, although defects in the GRN and MAPT genes are also associated with it.[1]


[1]van der Zee, Julie; Van Broeckhoven, Christine (7 January 2014). "Dementia in 2013: Frontotemporal lobar degeneration—building on breakthroughs". Nature Reviews Neurology. 10 (2): 70–72. doi:10.1038/nrneurol.2013.270. PMID 24394289.

The search result for the NDD Category "Frontotemporal Lobar Degeneration"
A total of 99 results found based on your keywords
RF_ID Disease Name Species RF_Name Association Phase Condition Year PMID
2289 Frontotemporal Lobar Degeneration Human APOE RF ε2ε2 vs. ε3ε3 2017 28487499
2146 Frontotemporal Lobar Degeneration Human APOE RF ε4 vs. ε2+ε3+ε4 allele model 2017 28487499
2231 Frontotemporal Lobar Degeneration Human APOE RF ε4 vs. ε3 allele model 2017 28487499
2126 Frontotemporal Lobar Degeneration Human APOE RF ε4 vs. ε2+ε3+ε4 carrier model 2017 28487499
2728 Frontotemporal Lobar Degeneration Human APOE RF ε4ε4 vs. ε3ε3+ε3ε4 2017 28487499
2143 Frontotemporal Lobar Degeneration Human APOE RF ε4 vs. ε2 allele model 2017 28487499
2340 Frontotemporal Lobar Degeneration Human APOE RF ε2ε2 vs. ε3ε3+ε3ε2 2017 28487499
520 Frontotemporal Lobar Degeneration Human APOE PF ε2 allele 2006 15904995
2696 Frontotemporal Lobar Degeneration Human APOE RF ε4 allele 2006 15904995
2208 Frontotemporal Lobar Degeneration Human APOE RF ε3ε4 vs. ε3ε3 2017 28487499
2818 Frontotemporal Lobar Degeneration Human APOE RF ε4ε4 vs. ε3ε3 2017 28487499
2272 Frontotemporal Lobar Degeneration Human APOE RF ε3ε4+ε4ε4 vs. ε3ε3 2017 28487499
2753 Frontotemporal Lobar Degeneration Human APOE RF ε4 allele 2013 23887281
2510 Frontotemporal Lobar Degeneration Human APOE,TOMM40 RF APOE-TOMM40 haplotype: ε4 GAC 2013 23546992
3203 Frontotemporal Lobar Degeneration Human ATXN2 RF ATXN2 intermediary repeat length>=29 2014 25098532
2860 Frontotemporal Lobar Degeneration Human C4orf27 RF Discovery stage 2019 30739198
3209 Frontotemporal Lobar Degeneration Human C9orf72 RF C9orf72 repeat expansions; All FTD patients with mutations had a positive family history for dementia or ALS 2014 25108559
2206 Frontotemporal Lobar Degeneration Human CST3 RF negative for the presence of PGRN mutations;haplotype B 2010 19674067
2257 Frontotemporal Lobar Degeneration Human CST3 RF negative for the presence of PGRN mutations;AB/BB genotypes 2010 19674067
2920 Frontotemporal Lobar Degeneration Human DCUN1D1 RF Genotype:GG 2009 19473369
2627 Frontotemporal Lobar Degeneration Human DPP6 RF Discovery stage 2019 30739198
2621 Frontotemporal Lobar Degeneration Human DPP6 RF Discovery stage 2019 30739198
2808 Frontotemporal Lobar Degeneration Human GRN RF Genotype:TT 2008 18723524
3263 Frontotemporal Lobar Degeneration Human GRN RF 2014 24503614
3671 Frontotemporal Lobar Degeneration Human GRN RF FTLD with TAR DNA-binding protein (TDP-43) inclusions 2010 20154673
2219 Frontotemporal Lobar Degeneration Human GRN RF more common (T) allele 2010 20154673
2486 Frontotemporal Lobar Degeneration Human HLA-DQA2 RF Discovery stage 2019 30739198
2338 Frontotemporal Lobar Degeneration Human HLA-DQA2 RF Replication stage 2019 30739198
533 Frontotemporal Lobar Degeneration Human HMCN1 PF Discovery stage 2019 30739198
2217 Frontotemporal Lobar Degeneration Human hnRNP-A1 RF C/C genotype 2011 21548758
2597 Frontotemporal Lobar Degeneration Human hnRNP-A1 RF C/C genotype 2011 21548758
2201 Frontotemporal Lobar Degeneration Human IMMP2L RF Discovery stage 2019 30739198
696 Frontotemporal Lobar Degeneration Human IRF2 PF Discovery stage 2019 30739198
2105 Frontotemporal Lobar Degeneration Human LOC101927354 RF Discovery stage 2019 30739198
3049 Frontotemporal Lobar Degeneration Human MAPT RF H2H2 vs. H1H2 + H1H1 2006 16410051
2783 Frontotemporal Lobar Degeneration Human MAPT RF 2012 22556362
3288 Frontotemporal Lobar Degeneration Human MFSD8 RF 2019 30382371
2129 Frontotemporal Lobar Degeneration Human MIR548AP RF Discovery stage 2019 30739198
2226 Frontotemporal Lobar Degeneration Human NOS3 RF 2009 19087148
2287 Frontotemporal Lobar Degeneration Human OLFM1 RF Discovery stage 2019 30739198
700 Frontotemporal Lobar Degeneration Human RERG PF Discovery stage 2019 30739198
3346 Frontotemporal Lobar Degeneration Human TARDBP RF 2008 18505686
2686 Frontotemporal Lobar Degeneration Human tau RF tau Genotype:H1H1;absence of APOE E2 allele 2002 12056929
2846 Frontotemporal Lobar Degeneration Human tau RF tau Genotype:H1H2+H2H2;presence of APOE E2 allele 2002 12056929
3118 Frontotemporal Lobar Degeneration Human tau,APOE RF tau A3,APOE ε4 2001 11303757
2479 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 9 SNP association; Denotes the associated SNP’s from the GWAS. 2011 21257233
3673 Frontotemporal Lobar Degeneration Human TMEM106B RF FTLD with TAR DNA-binding protein (TDP-43) inclusions 2010 20154673
2553 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 9 SNP association; Denotes the associated SNP’s from the GWAS;Denotes the associated SNP’s from the ALS GWAS 2011 21257233
2942 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 9 SNP association 2011 21257233
2318 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 9 SNP association; Denotes the associated SNP’s from the GWAS. 2011 21257233
2489 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 9 SNP association 2011 21257233
668 Frontotemporal Lobar Degeneration Human TMEM106B PF for SNPs on chromosomes 1, 8, 10 and 11 genotyped 2011 21257233
1849 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 1 SNP association 2011 21257233
2235 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 1 SNP association 2011 21257233
2512 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 9 SNP association 2011 21257233
2607 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 9 SNP association; Denotes the associated SNP’s from the GWAS. 2011 21257233
2317 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 9 SNP association 2011 21257233
662 Frontotemporal Lobar Degeneration Human TMEM106B PF GRN carriers 2014 25085782
3798 Frontotemporal Lobar Degeneration Human TMEM106B RF Diagnosis 2021 33314436
2549 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 9 SNP association 2011 21257233
2244 Frontotemporal Lobar Degeneration Human TMEM106B RF for chromosome 9 SNP association 2011 21257233
3365 Frontotemporal Lobar Degeneration Human TREM2 RF Compound heterozygosity 2018 29557178
2617 Frontotemporal Lobar Degeneration Human TREM2 RF T vs. C 2018 29322490
2679 Frontotemporal Lobar Degeneration Human TREM2 RF carrier T vs. G 2018 29322490
3362 Frontotemporal Lobar Degeneration Human TREM2 RF A large consanguineous Colombian family segregating autosomal recessive FTLD 2013 23582655
3367 Frontotemporal Lobar Degeneration Human TREM2 RF Homozygosity 2018 29557178
2559 Frontotemporal Lobar Degeneration Human TREM2 RF CT vs. CC 2018 29322490
3012 Frontotemporal Lobar Degeneration Human TREM2 RF 2013 23800361
2681 Frontotemporal Lobar Degeneration Human TREM2 RF GT+TT vs. GG 2018 29322490
3364 Frontotemporal Lobar Degeneration Human TREM2 RF 2018 29557178
2552 Frontotemporal Lobar Degeneration Human TREM2 RF carrier T vs. C 2018 29322490
2678 Frontotemporal Lobar Degeneration Human TREM2 RF T vs. G 2018 29322490
3366 Frontotemporal Lobar Degeneration Human TREM2 RF 2018 29557178
2558 Frontotemporal Lobar Degeneration Human TREM2 RF CT+TT vs. CC 2018 29322490
2680 Frontotemporal Lobar Degeneration Human TREM2 RF GT vs. GG 2018 29322490
3363 Frontotemporal Lobar Degeneration Human TREM2 RF Compound heterozygosity 2018 29557178
2069 Frontotemporal Lobar Degeneration Human UBAP1 RF Haplotype:TGC 2009 19217189
2031 Frontotemporal Lobar Degeneration Human UBAP1 RF Haplotype:TGC 2009 19217189
2068 Frontotemporal Lobar Degeneration Human UBAP1 RF Haplotype:GCT 2009 19217189
2099 Frontotemporal Lobar Degeneration Human UNC13A RF Discovery stage 2019 30739198
2171 Frontotemporal Lobar Degeneration Human UNC13A RF Replication stage 2019 30739198
2049 Frontotemporal Lobar Degeneration Human VEGF RF A allele 2008 18729809
2020 Frontotemporal Lobar Degeneration Human VEGF RF A allele 2008 18729809
564 Frontotemporal Lobar Degeneration Human heart disease PF 2012 22465176
801 Frontotemporal Lobar Degeneration Human duration of exposure PF for every 5 years of exposure increase 2017 28946566
2539 Frontotemporal Lobar Degeneration Human Delayed, prolonged Orthostatic hypotension (OH) RF compared to subjects without OH in subjects with MCI and patients with dementia 2019 31381517
2541 Frontotemporal Lobar Degeneration Human Delayed, prolonged Orthostatic hypotension (OH) RF compared to subjects without OH in subjects with MCI and patients with dementia 2019 31381517
2540 Frontotemporal Lobar Degeneration Human Delayed, prolonged Orthostatic hypotension (OH) RF compared to subjects without OH in subjects with MCI and patients with dementia 2019 31381517
658 Frontotemporal Lobar Degeneration Human Low levels of serum uric acid (UA) PF 2017 28620833
2263 Frontotemporal Lobar Degeneration Human Orthostatic hypotension (OH) RF in subjects with MCI, and patients with dementia compared to subjects with SCD 2019 31381517
2188 Frontotemporal Lobar Degeneration Human Orthostatic hypotension (OH) RF in subjects with MCI, and patients with dementia compared to subjects with SCD 2019 31381517
2189 Frontotemporal Lobar Degeneration Human Orthostatic hypotension (OH) RF in subjects with MCI, and patients with dementia compared to subjects with SCD 2019 31381517
3637 Frontotemporal Lobar Degeneration Human Vitamin B12 deficiency RF 2015 25722508
2234 Frontotemporal Lobar Degeneration Human traumatic brain injury (TBI) RF Remote TBI with extended loss of consciousness (TBI-ext) 2015 25531628
2962 Frontotemporal Lobar Degeneration Human traumatic brain injury (TBI) RF 2012 22465176
507 Frontotemporal Lobar Degeneration Human Drinking PF Current alcohol consumers 2017 28946566
530 Frontotemporal Lobar Degeneration Human Drinking PF 2017 28946566
1724 Frontotemporal Lobar Degeneration Human Familial aggregation RF first-degree relatives (parents and siblings) of frontotemporal dementia (FTD) patients 1998 9633692
2677 Frontotemporal Lobar Degeneration Human Obesity RF 2019 30792733
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