ArticleNeuropathology and applied neurobiology2017
Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy.
Article in Neuropathology and applied neurobiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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36 citing papers in PubMed, 58 citations in OpenAlex.
- Mutation-specific neuropathologic signatures in MAPT-associated frontotemporal lobar degeneration.Acta neuropathologica · 2026Article
- Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.Acta neuropathologica · 2025Article
- Distinct tau filament folds in human MAPT mutants P301L and P301T.Nature structural & molecular biology · 2025Article
- Immunization targeting diseased proteins in synucleinopathy and tauopathy: insights from clinical trials.Translational neurodegeneration · 2025Review
- Hippocampal mitophagy alterations in MAPT-associated frontotemporal dementia with parkinsonism.Acta neuropathologica communications · 2025Article
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- Genetic forms of tauopathies: inherited causes and implications of Alzheimer's disease-like TAU pathology in primary and secondary tauopathies.Journal of neurology · 2024Review
- Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation.Alzheimer's research & therapy · 2023Article
- Accumulation of pTau231 at the Postsynaptic Density in Early Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2023Article
- Frontotemporal Dementia-Parkinsonism Due toTremor and other hyperkinetic movements (New York, N.Y.) · 2023Article
- Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration.Acta neuropathologica · 2022Article
- 18F-MK-6240 tau-PET in genetic frontotemporal dementia.Brain : a journal of neurology · 2022Article
- Microtubule-associated protein tau in murine kidney: role in podocyte architecture.Cellular and molecular life sciences : CMLS · 2022Article
- Cellular and pathological heterogeneity of primary tauopathies.Molecular neurodegeneration · 2021Review
- Phenotype Heterogeneity and Genotype Correlation of MAPT Mutations in a Chinese PUMCH Cohort.Journal of molecular neuroscience : MN · 2021Article
- 18F-flortaucipir PET to autopsy comparisons in Alzheimer's disease and other neurodegenerative diseases.Brain : a journal of neurology · 2020Article
- Diagnostic Assessment in Primary Progressive Aphasia: An Illustrative Case Example.American journal of speech-language pathology · 2020Article
- Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT-P301L mutation.Acta neuropathologica · 2020Article
- Article
- Familial globular glial tauopathy linked to MAPT mutations: molecular neuropathology and seeding capacity of a prototypical mixed neuronal and glial tauopathy.Acta neuropathologica · 2020Article
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11 authors at 4 institutions in 1 country.
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Abstract
aimThe p.P301L mutation in microtubule-associated protein tau (MAPT) is a common cause of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). We compare clinicopathologic features of five unrelated and three related (brother, sister and cousin) patients with FTDP-17 due to p.P301L mutation.
methodsGenealogical, clinical, neuropathologic and genetic data were reviewed from eight individuals.
resultsThe series consisted of five men and three women with an average age of death of 58 years (52-65 years) and average disease duration of 9 years (3-14 years). The first symptoms were those of behavioural variant frontotemporal dementia in seven patients and semantic variant of primary progressive aphasia in one. Three patients were homozygous for the MAPT H1 haplotype; five had H1/H2 genotype. The apolipoprotein E genotype was ϵ3/ϵ3 in seven and ϵ3/ϵ4 in one. The average brain weight was 1015 g (876-1188 g). All had frontotemporal lobar or more diffuse cortical atrophy. Except for one patient, the hippocampus and parahippocampal gyrus had minimal atrophy, whereas there was atrophy of middle and inferior temporal gyri. Dentate fascia neuronal dispersion was identified in three patients, two of whom had epilepsy. In one patient there was extensive white matter tau involvement with Gallyas-positive globular glial inclusions typical of globular glial tauopathy (GGT).
conclusionsThis clinicopathologic study shows inter- and intra-familial clinicopathologic heterogeneity of FTDP-17 due to MAPT p.P301L mutation, including GGT in one patient.
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