Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation.

scientific article

Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1111/J.1468-1331.2008.02069.X
P698PubMed publication ID18284428

P50authorIan LawQ20984800
P2093author name stringJ E Nielsen
M Schwartz
G Waldemar
I E Holm
J Stokholm
M Batbayli
S G Lindquist
P2860cites workGuidelines for the molecular genetics predictive test in Huntington's diseaseQ22306172
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Q28253639
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Q28253651
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17Q28274687
Neuropathologic, biochemical, and molecular characterization of the frontotemporal dementiasQ30989766
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar DegenerationQ33685317
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.Q38435579
Inheritance of frontotemporal dementiaQ41679025
FTDP-17 mutations compromise the ability of tau to regulate microtubule dynamics in cellsQ43519306
Amyloid beta protein deposition in patients with frontotemporal lobar degeneration: relationship to age and apolipoprotein E genotypeQ43601565
Discrimination between Alzheimer dementia and controls by automated analysis of multicenter FDG PET.Q44249033
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western EuropeQ44601555
The tau R406W mutation causes progressive presenile dementia with bitemporal atrophyQ44922719
Decline of cerebral glucose metabolism in frontotemporal dementia: a longitudinal 18F-FDG-PET-study.Q46920843
Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's diseaseQ47592773
Phenotypic variation in hereditary frontotemporal dementia with tau mutationsQ48096039
Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.Q48338403
An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodiesQ48609551
Autosomal dominant dementia with widespread neurofibrillary tangles.Q48614844
Early-onset, rapidly progressive familial tauopathy with R406W mutationQ48665110
Metabolic reduction in the posterior cingulate cortex in very early Alzheimer's diseaseQ48671019
Familial presenile dementia with bitemporal atrophy.Q52000169
P433issue4
P921main subjectAlzheimer's diseaseQ11081
phenotypeQ104053
P304page(s)377-385
P577publication date2008-02-16
P1433published inEuropean Journal of NeurologyQ15757256
P1476titleAlzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation
P478volume15

Reverse relations

cites work (P2860)
Q3719856318F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers
Q38225911Alzheimer's disease genetics: from the bench to the clinic
Q34555422An algorithm for genetic testing of frontotemporal lobar degeneration
Q64103820Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry
Q36576421C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic
Q36926919C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease
Q38350075Cellular factors modulating the mechanism of tau protein aggregation
Q34987511Cerebral hypometabolism and grey matter density in MAPT intron 10 +3 mutation carriers
Q38749513Chronic consumption of Annona muricata juice triggers and aggravates cerebral tau phosphorylation in wild-type and MAPT transgenic mice.
Q40110802Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport
Q35607649Evidence for a Common Founder and Clinical Characteristics of Japanese Families with the MAPT R406W Mutation
Q48568406FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.
Q38101089From frontotemporal lobar degeneration pathology to frontotemporal lobar degeneration biomarkers.
Q48463219Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques
Q36067164Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells
Q48613708Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population
Q53396036Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.
Q38027808Genetics of dementia: update and guidelines for the clinician
Q50026038In vivo 18F-AV-1451 tau-PET signal in MAPT mutation carriers varies by expected tau isoforms
Q60045126Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP
Q27020981Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging
Q47280369Memantine for the Treatment of Dementia: A Review on its Current and Future Applications.
Q26750717Molecular genetics of early-onset Alzheimer's disease revisited
Q61853785Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia
Q30572288Origins of Alzheimer's disease: reconciling cerebrospinal fluid biomarker and neuropathology data regarding the temporal sequence of amyloid-beta and tau involvement
Q37146802Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation
Q28732285Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families
Q50587105Slowly progressive behavioural presentation in two UK cases with the R406W MAPT mutation.
Q49686872Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review.
Q34680852Tau PET imaging: present and future directions
Q41322257The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome
Q34600755The frontotemporal dementia mutation R406W blocks tau's interaction with the membrane in an annexin A2-dependent manner.
Q28082768Three dimensions of the amyloid hypothesis: time, space and 'wingmen'
Q36410282Young-onset frontotemporal dementia in a homozygous tau R406W mutation carrier