ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2014
Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 19 citations in OpenAlex.
- Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review.Alzheimer's research & therapy · 2018Pooled it
- Pooled it
- Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum.Brain : a journal of neurology · 2023Article
- Recent advances in the genetics of frontotemporal dementia.Current genetic medicine reports · 2019Article
- Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.JAMA neurology · 2017Article
- Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function.Journal of Alzheimer's disease & Parkinsonism · 2017Article
- Evaluating pathogenic dementia variants in posterior cortical atrophy.Neurobiology of aging · 2016Article
- Young-onset frontotemporal dementia in a homozygous tau R406W mutation carrier.Annals of clinical and translational neurology · 2015Article
- Parkinsonian syndrome in familial frontotemporal dementia.Parkinsonism & related disorders · 2014Review
- The Genetics of Monogenic Frontotemporal Dementia.Dementia & neuropsychologiaReview
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundThe Arg406Trp (R406W) missense mutation in the microtubule-associated protein-tau gene (MAPT) is a known cause of early-onset dementia. Various dementia phenotypes have been described, including frontotemporal dementia (FTD), FTD with parkinsonism, and early-onset Alzheimer disease (EOAD)-like presentations.
methodsUsing whole-exome capture with subsequent sequencing, we identified the R406W mutation in a family with multiple individuals with clinically diagnosed EOAD, in a pattern suggesting autosomal dominant inheritance. We reevaluated all available family members clinically.
resultsEach of the affected individuals had a course meeting clinical criteria for EOAD. Two distinct disease trajectories were apparent: one rapidly progressive, and the other long and gradual. Four of five affected individuals also manifested parkinsonian symptoms. FTD features were not prominent and, when present, appeared only late in the course of dementia.
conclusionsThe MAPT R406W mutation is associated with EOAD-like symptoms and parkinsonism without FTD, as well as distinct cognitive courses.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.