ArticleMovement disorders : official journal of the Movement Disorder Society2019
Clinical heterogeneity of frontotemporal dementia and Parkinsonism linked to chromosome 17 caused by MAPT N279K mutation in relation to tau positron emission tomography features.
Article in Movement disorders : official journal of the Movement Disorder Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Subtracting First Principal Component May Improve 4R Tau Detectability on [Journal of nuclear medicine : official publication, Society of Nuclear Medicine · 2026Article
- Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.Movement disorders clinical practice · 2024Article
- Tau pathology in neurodegenerative disease: disease mechanisms and therapeutic avenues.The Journal of clinical investigation · 2023Review
- The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.NPJ Parkinson's disease · 2023Article
- Molecular imaging biomarkers in familial frontotemporal lobar degeneration: Progress and prospects.Frontiers in neurology · 2022Review
- Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies.Frontiers in neurology · 2022Review
- Recent Developments in Positron Emission Tomography Tracers for Proteinopathies Imaging in Dementia.Frontiers in aging neuroscience · 2021Review
- Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations.Advances in experimental medicine and biology · 2021Review
- Unclassified four-repeat tauopathy associated with familial parkinsonism and progressive respiratory failure.Acta neuropathologica communications · 2020Article
- Deep Learning-Based Classification and Voxel-Based Visualization of Frontotemporal Dementia and Alzheimer's Disease.Frontiers in neuroscience · 2020Article
- Anterograde Axonal Transport in Neuronal Homeostasis and Disease.Frontiers in molecular neuroscience · 2020Review
- FTD spectrum: Neuroimaging across the FTD spectrum.Progress in molecular biology and translational science · 2019Review
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
backgroundWhile mechanistic links between tau abnormalities and neurodegeneration have been proven in frontotemporal dementia and parkinsonism linked to chromosome 17 caused by MAPT mutations, variability of the tau pathogenesis and its relation to clinical progressions in the same MAPT mutation carriers are yet to be clarified.
objectivesThe present study aimed to analyze clinical profiles, tau accumulations, and their correlations in 3 kindreds with frontotemporal dementia and parkinsonism linked to chromosome 17 attributed to the MAPT N279K mutation.
methodsFour patients with N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT underwent [
resultsHaplotype assays revealed that these kindreds originated from a single founder. Despite homogeneity of the disease-causing MAPT allele, clinical progression was more rapid in 2 kindreds than in the other. The kindred with slow progression showed mild tau depositions, mostly confined to the midbrain and medial temporal areas. In contrast, kindreds with rapid progression showed profoundly increased [
conclusions[
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