Condition: Frontotemporal dementia


rs7240419 in ATP9B gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

rs1980493 in BTNL2;TSBP1-AS1 gene and Frontotemporal dementia PMID 24943344 2014 Frontotemporal dementia and its subtypes: a genome-wide association study.

rs2659030 in CEP131 gene and Frontotemporal dementia PMID 26154020 2015 A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.

rs6962939 in COL28A1 gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

rs2732260 in FUT10 gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

rs36196656 in GFRA2 gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

rs9268856 in HLA-DRB9 gene and Frontotemporal dementia PMID 24943344 2014 Frontotemporal dementia and its subtypes: a genome-wide association study.

rs17042852 in LINC01867;LOC730100 gene and Frontotemporal dementia PMID 26154020 2015 A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.

rs1048775 in LOC105371925;TEPSIN gene and Frontotemporal dementia PMID 26154020 2015 A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.

rs63750092 in MAPT gene and Frontotemporal dementia PMID 11921059 2002 Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.

PMID 9736786 1998 Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

PMID 9641683 1998 Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.

PMID 12509859 2003 A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.

PMID 16240366 2005 Phenotypic heterogeneity within a new family with the MAPT p301s mutation.

PMID 12473774 2002 Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).

PMID 11889249 2002 Early-onset, rapidly progressive familial tauopathy with R406W mutation.

PMID 15883319 2005 A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

PMID 11585254 2001 Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.

PMID 10214944 1999 Accelerated filament formation from tau protein with specific FTDP-17 missense mutations.

PMID 14517953 2003 Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.

PMID 10374757 1999 Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

PMID 10208578 1999 A distinct familial presenile dementia with a novel missense mutation in the tau gene.

PMID 11906000 2002 Functional effects of tau gene mutations deltaN296 and N296H.

PMID 10802785 2000 Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.

PMID 11071507 2000 A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.

PMID 10489057 1999 A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.

PMID 11117541 2000 Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.

PMID 11278002 2001 Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes.

PMID 10553987 1999 FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 12509859 2003 A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.

PMID 11585254 2001 Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.

PMID 10214944 1999 Here, we present evidence that frontotemporal dementia and Parkinsonism linked to chromosome 17 missense mutations, P301L, V337M and R406W, cause an accelerated aggregation of tau into filaments.

PMID 11117541 2000 We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in whom we found a novel E12 (Glu342Val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4R tau messenger RNA, increased 4R tau without E2 or E3 inserts, decreased 4R tau with these inserts, and a 4R:3R tau ratio greater than 1 in gray and white matter.

PMID 16219306 2005 Transgenic mice expressing mutant (N279K) human tau show mutation dependent cognitive deficits without neurofibrillary tangle formation.

PMID 26373282 2015 Consistently, the levels of intracellular/luminal vesicle and exosome marker flotillin-1 were significantly increased in frontal and temporal cortices of PPND/FTDP-17 patients with the N279K tau mutation, events that were not seen in the occipital cortex which is the most spared cortical region in the patients.

PMID 19498037 2009 Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing.

PMID 27082848 2017 GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.

PMID 26220942 2015 Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.

PMID 26143746 2015 Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein.

PMID 17715352 2007 The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.

PMID 10802785 2000 The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism.

PMID 14568818 2003 A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene.

PMID 10412802 1999 A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.

PMID 19766248 2009 Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation.

PMID 19786698 2009 Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations.

PMID 20045477 2010 Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations.

PMID 28097206 2016 [18F]AV-1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation.

PMID 23680655 2013 Neurodegenerative disorder FTDP-17-related tau intron 10 +16C → T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice.

PMID 19365643 2009 Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.

PMID 17923640 2007 Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease.

PMID 11971081 2002 Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation.

PMID 11708988 2001 The genetic and pathological classification of familial frontotemporal dementia.

PMID 11912108 2002 Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.

PMID 27439681 2016 We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.

PMID 11756436 2002 Functional characterization of FTDP-17 tau gene mutations through their effects on Xenopus oocyte maturation.

PMID 25592136 2015 Investigating degeneration of the retina in young and aged tau P301L mice.

PMID 22723997 2012 Genotype-specific differences between mouse CNS stem cell lines expressing frontotemporal dementia mutant or wild type human tau.

PMID 22022446 2011 Age-related impairment of ultrasonic vocalization in Tau.P301L mice: possible implication for progressive language disorders.

PMID 26519432 2016 Hyperactivity with Agitative-Like Behavior in a Mouse Tauopathy Model.

PMID 26269332 2015 The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome.

rs2255166 in NDUFAF8;TEPSIN gene and Frontotemporal dementia PMID 26154020 2015 A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.

rs13393316 in NDUFS1 gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

rs1566650594 in PSEN1 gene and Frontotemporal dementia PMID 28350801 2017 APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

PMID 20634584 2010 Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

PMID 26194182 2015 De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

PMID 10447269 1999 A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.

PMID 11524469 2001 Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

PMID 10468510 1999 The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.

PMID 27206484 2016 Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.

PMID 9521418 1998 Presenilin mutations in Alzheimer's disease.

PMID 24773620 2014 U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.

PMID 26923592 2016 Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.

PMID 27930341 2017 Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

PMID 17197420 2007 The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

PMID 22312439 2012 Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

PMID 25333068 2014 Disease-related mutations among Caribbean Hispanics with familial dementia.

PMID 11710891 2001 A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.

PMID 18797263 2008 Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

PMID 23114514 2013 Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia.

PMID 27073747 2016 The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.

PMID 16897084 2006 The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families.

PMID 21373759 2011 Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.

PMID 16628450 2006 Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.

PMID 20145736 2010 Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.

PMID 22461631 2012 Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.

PMID 24217025 2014 The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.

PMID 7550356 1995 The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.

PMID 25471389 2015 Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.

PMID 22766738 2012 Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation.

PMID 25921538 2015 APP metabolism regulates tau proteostasis in human cerebral cortex neurons.

PMID 9384602 1998 Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

PMID 27777022 2016 Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

PMID 24418614 2014 Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP.

PMID 9680315 1997 Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing.

PMID 12493631 2003 Transgenic mice expressing the PS1-A246E mutation: effects on spatial learning, exploration, anxiety, and motor coordination.

PMID 25174650 2015 Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

PMID 7596406 1995 Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

PMID 9189043 1997 A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.

PMID 8910898 1996 A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.

PMID 15205973 2004 Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation.

PMID 27793474 2017 Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.

PMID 15776278 2005 Novel mutations and repeated findings of mutations in familial Alzheimer disease.

PMID 18580586 2008 Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

PMID 9225696 1997 Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

PMID 11684347 2001 A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.

PMID 27014058 2016 Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

PMID 29316780 2018 PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 27100199 2016 Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.

PMID 27100200 2016 Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.

PMID 8634712 1995 Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

PMID 25741723 2015 Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.

PMID 17545141 2007 Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.

PMID 24011544 2014 Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.

PMID 21559374 2011 Presenilin/γ-secretase regulates neurexin processing at synapses.

PMID 17553989 2007 Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.

PMID 22115042 2012 MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.

PMID 23843529 2013 Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.

PMID 9196071 1997 Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides.

PMID 24880964 2014 Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

PMID 20484632 2010 Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling.

PMID 17288597 2007 Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism.

rs302668 in RAB38 gene and Frontotemporal dementia PMID 24943344 2014 We also identified a potential novel locus at 11q14, encompassing RAB38/CTSC (the transcripts of which are related to lysosomal biology), for the behavioural FTD subtype for which joint analyses showed suggestive association for rs302668 (p=2·44 × 10(-7); 0·814 [0·71-0·92]).

rs6111609 in RRBP1 gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

rs9792144 in ST18 gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

rs7791726 in TMEM106B gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

rs6809184 in TNIK gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

rs12546767 in WASHC5 gene and Frontotemporal dementia PMID 24931836 2014 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.