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 115 results found based on your keywords
RF_ID Disease Name Species RF_Name Association Condition PMID
15 Frontotemporal Lobar Degeneration human APOE RF ε4 vs. ε3 allele model 28487499
15 Frontotemporal Lobar Degeneration human APOE RF ε4 vs. ε2 allele model 28487499
15 Frontotemporal Lobar Degeneration human APOE RF ε4 vs. ε2+ε3+ε4 allele model 28487499
15 Frontotemporal Lobar Degeneration human APOE RF ε4 vs. ε2+ε3+ε4 carrier model 28487499
15 Frontotemporal Lobar Degeneration human APOE RF ε4ε4 vs. ε3ε3 28487499
15 Frontotemporal Lobar Degeneration human APOE RF ε3ε4 vs. ε3ε3 28487499
15 Frontotemporal Lobar Degeneration human APOE RF ε3ε4+ε4ε4 vs. ε3ε3 28487499
15 Frontotemporal Lobar Degeneration human APOE RF ε4ε4 vs. ε3ε3+ε3ε4 28487499
15 Frontotemporal Lobar Degeneration human APOE RF ε2ε2 vs. ε3ε3 28487499
15 Frontotemporal Lobar Degeneration human APOE RF ε2ε2 vs. ε3ε3+ε3ε2 28487499
15 Frontotemporal Lobar Degeneration human APOE RF ε4 allele 15904995
15 Frontotemporal Lobar Degeneration human APOE PF ε2 allele 15904995
15 Frontotemporal Lobar Degeneration human APOE RF ε4 allele 23887281
21 Frontotemporal Lobar Degeneration human APOE,TOMM40 RF APOE-TOMM40 haplotype: ε4 GAC 23546992
33 Frontotemporal Lobar Degeneration human ATXN2 RF ATXN2 intermediary repeat length>=29 25098532
39 Frontotemporal Lobar Degeneration human C17orf89 RF Minor allele:C 26154020
42 Frontotemporal Lobar Degeneration human C4orf27 RF Discovery stage 30739198
44 Frontotemporal Lobar Degeneration human C9orf72 RF C9orf72 repeat expansions; All FTD patients with mutations had a positive family history for dementia or ALS 25108559
55 Frontotemporal Lobar Degeneration human CEP131 RF Minor allele:T 26154020
55 Frontotemporal Lobar Degeneration human CEP131 RF Minor allele:T 26154020
55 Frontotemporal Lobar Degeneration human CEP131 RF Minor allele:A 26154020
55 Frontotemporal Lobar Degeneration human CEP131 RF Minor allele:A 26154020
55 Frontotemporal Lobar Degeneration human CEP131 RF Minor allele:C 26154020
76 Frontotemporal Lobar Degeneration human CST3 RF negative for the presence of PGRN mutations;haplotype B 19674067
76 Frontotemporal Lobar Degeneration human CST3 RF negative for the presence of PGRN mutations;AB/BB genotypes 19674067
87 Frontotemporal Lobar Degeneration human DCUN1D1 RF Genotype:GG 19473369
91 Frontotemporal Lobar Degeneration human DPP6 RF Discovery stage 30739198
91 Frontotemporal Lobar Degeneration human DPP6 RF Discovery stage 30739198
100 Frontotemporal Lobar Degeneration human ENTHD2 RF Minor allele:G 26154020
122 Frontotemporal Lobar Degeneration human GRN RF 24503614
122 Frontotemporal Lobar Degeneration human GRN RF Genotype:TT 18723524
122 Frontotemporal Lobar Degeneration human GRN RF more common (T) allele 20154673
131 Frontotemporal Lobar Degeneration human HLA-DQA2 RF Discovery stage 30739198
131 Frontotemporal Lobar Degeneration human HLA-DQA2 RF Replication stage 30739198
135 Frontotemporal Lobar Degeneration human HMCN1 PF Discovery stage 30739198
136 Frontotemporal Lobar Degeneration human hnRNP-A1 RF C/C genotype 21548758
136 Frontotemporal Lobar Degeneration human hnRNP-A1 RF C/C genotype 21548758
147 Frontotemporal Lobar Degeneration human IMMP2L RF Discovery stage 30739198
152 Frontotemporal Lobar Degeneration human IRF2 PF Discovery stage 30739198
162 Frontotemporal Lobar Degeneration human LOC101927354 RF Discovery stage 30739198
166 Frontotemporal Lobar Degeneration human LOC730100 RF Minor allele:C 26154020
166 Frontotemporal Lobar Degeneration human LOC730100 RF Minor allele:G 26154020
166 Frontotemporal Lobar Degeneration human LOC730100 RF Minor allele:C 26154020
166 Frontotemporal Lobar Degeneration human LOC730100 RF Minor allele:T 26154020
166 Frontotemporal Lobar Degeneration human LOC730100 RF Minor allele:C 26154020
166 Frontotemporal Lobar Degeneration human LOC730100 RF Minor allele:A 26154020
166 Frontotemporal Lobar Degeneration human LOC730100 RF Minor allele:T 26154020
173 Frontotemporal Lobar Degeneration human MAPT RF H2H2 vs. H1H2 + H1H1 16410051
173 Frontotemporal Lobar Degeneration human MAPT RF 22556362
178 Frontotemporal Lobar Degeneration human MFSD8 RF 30382371
181 Frontotemporal Lobar Degeneration human MIR548AP RF Discovery stage 30739198
200 Frontotemporal Lobar Degeneration human NOS1 RF T allele 18042235
201 Frontotemporal Lobar Degeneration human NOS3 RF 19087148
205 Frontotemporal Lobar Degeneration human OLFM1 RF Discovery stage 30739198
242 Frontotemporal Lobar Degeneration human RERG PF Discovery stage 30739198
274 Frontotemporal Lobar Degeneration human TARDBP RF 18505686
274 Frontotemporal Lobar Degeneration human TARDBP RF heterozygous c.876_878delCAG 22892647
275 Frontotemporal Lobar Degeneration human tau RF tau Genotype:H1H1;absence of APOE E2 allele 12056929
275 Frontotemporal Lobar Degeneration human tau RF tau Genotype:H1H2+H2H2;presence of APOE E2 allele 12056929
278 Frontotemporal Lobar Degeneration human tau,APOE RF tau A3,APOE ε4 11303757
287 Frontotemporal Lobar Degeneration human TMEM106B PF GRN carriers 25085782
287 Frontotemporal Lobar Degeneration human TMEM106B PF for SNPs on chromosomes 1, 8, 10 and 11 genotyped 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 1 SNP association 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 1 SNP association 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 9 SNP association 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 9 SNP association 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 9 SNP association 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 9 SNP association 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 9 SNP association; Denotes the associated SNP’s from the FTLD-TDP GWAS. 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 9 SNP association; Denotes the associated SNP’s from the FTLD-TDP GWAS. 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 9 SNP association; Denotes the associated SNP’s from the FTLD-TDP GWAS;Denotes the associated SNP’s from the ALS GWAS 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 9 SNP association; Denotes the associated SNP’s from the FTLD-TDP GWAS. 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 9 SNP association 21257233
287 Frontotemporal Lobar Degeneration human TMEM106B RF for chromosome 9 SNP association 21257233
293 Frontotemporal Lobar Degeneration human TREM2 RF 24139279
293 Frontotemporal Lobar Degeneration human TREM2 RF A large consanguineous Colombian family segregating autosomal recessive FTLD 23582655
293 Frontotemporal Lobar Degeneration human TREM2 RF Compound heterozygosity 29557178
293 Frontotemporal Lobar Degeneration human TREM2 RF 29557178
293 Frontotemporal Lobar Degeneration human TREM2 RF Compound heterozygosity 29557178
293 Frontotemporal Lobar Degeneration human TREM2 RF 29557178
293 Frontotemporal Lobar Degeneration human TREM2 RF Homozygosity 29557178
293 Frontotemporal Lobar Degeneration human TREM2 RF 23800361
293 Frontotemporal Lobar Degeneration human TREM2 RF T vs. C 29322490
293 Frontotemporal Lobar Degeneration human TREM2 RF CT vs. CC 29322490
293 Frontotemporal Lobar Degeneration human TREM2 RF CT+TT vs. CC 29322490
293 Frontotemporal Lobar Degeneration human TREM2 RF carrier T vs. C 29322490
293 Frontotemporal Lobar Degeneration human TREM2 RF T vs. G 29322490
293 Frontotemporal Lobar Degeneration human TREM2 RF GT vs. GG 29322490
293 Frontotemporal Lobar Degeneration human TREM2 RF GT+TT vs. GG 29322490
293 Frontotemporal Lobar Degeneration human TREM2 RF carrier T vs. G 29322490
297 Frontotemporal Lobar Degeneration human UBAP1 RF Haplotype:TGC 19217189
297 Frontotemporal Lobar Degeneration human UBAP1 RF Haplotype:TGC 19217189
297 Frontotemporal Lobar Degeneration human UBAP1 RF Haplotype:GCT 19217189
301 Frontotemporal Lobar Degeneration human UNC13A RF Discovery stage 30739198
301 Frontotemporal Lobar Degeneration human UNC13A RF Replication stage 30739198
303 Frontotemporal Lobar Degeneration human VEGF RF A allele 18729809
303 Frontotemporal Lobar Degeneration human VEGF RF A allele 18729809
414 Frontotemporal Lobar Degeneration human Drinking PF 28946566
414 Frontotemporal Lobar Degeneration human Drinking PF Current alcohol consumers 28946566
417 Frontotemporal Lobar Degeneration human duration of exposure PF for every 5 years of exposure increase 28946566
452 Frontotemporal Lobar Degeneration human Familial aggregation RF first-degree relatives (parents and siblings) of frontotemporal dementia (FTD) patients 9633692
480 Frontotemporal Lobar Degeneration human heart disease PF 22465176
315 Frontotemporal Lobar Degeneration human Obesity RF 30792733
678 Frontotemporal Lobar Degeneration human traumatic brain injury (TBI) RF 22465176
678 Frontotemporal Lobar Degeneration human traumatic brain injury (TBI) RF Remote TBI with extended loss of consciousness (TBI-ext) 25531628
710 Frontotemporal Lobar Degeneration human Delayed, prolonged Orthostatic hypotension (OH) RF compared to subjects without OH in subjects with MCI and patients with dementia 31381517
710 Frontotemporal Lobar Degeneration human Delayed, prolonged Orthostatic hypotension (OH) RF compared to subjects without OH in subjects with MCI and patients with dementia 31381517
710 Frontotemporal Lobar Degeneration human Delayed, prolonged Orthostatic hypotension (OH) RF compared to subjects without OH in subjects with MCI and patients with dementia 31381517
796 Frontotemporal Lobar Degeneration human Low levels of serum uric acid (UA) PF 28620833
818 Frontotemporal Lobar Degeneration human Orthostatic hypotension (OH) RF in subjects with MCI, and patients with dementia compared to subjects with SCD 31381517
818 Frontotemporal Lobar Degeneration human Orthostatic hypotension (OH) RF in subjects with MCI, and patients with dementia compared to subjects with SCD 31381517
818 Frontotemporal Lobar Degeneration human Orthostatic hypotension (OH) RF in subjects with MCI, and patients with dementia compared to subjects with SCD 31381517
847 Frontotemporal Lobar Degeneration human Vitamin B12 deficiency RF 25722508
122 Frontotemporal Lobar Degeneration human GRN RF FTLD with TAR DNA-binding protein (TDP-43) inclusions 32625160
287 Frontotemporal Lobar Degeneration human TMEM106B RF FTLD with TAR DNA-binding protein (TDP-43) inclusions 33138082
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