ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2019
Genetic screen in a large series of patients with primary progressive aphasia.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 60 citations in OpenAlex.
- The Genetics of TDP-43 Type C Neurodegeneration: A Whole-Genome Sequencing Study and Literature Review.Neurology. Genetics · 2026Article
- White Matter Hyperintensities in Behavioral Variant Frontotemporal Dementia and Semantic Variant Primary Progressive Aphasia.Neurology open access · 2026Article
- Mixed primary progressive aphasia and alcohol use disorder: a case of detailed clinical phenotyping outperforming molecular imaging.Neurocase · 2026Article
- Mapping Alzheimer's disease heterogeneity through exploratory unsupervised learning.Frontiers in aging neuroscience · 2026Article
- Random forest model improves annotation and discovery of variants of uncertain significance in Alzheimer's and other neurological disorders.bioRxiv : the preprint server for biology · 2025Article
- Combining plasma neurofilament light chain and frontotemporal atrophy improves differentiation of bvFTD from primary psychiatric disorders.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP-43 A and B.Annals of clinical and translational neurology · 2025Article
- Primary Progressive Aphasias: Diagnosis and Treatment.Brain sciences · 2025Review
- Primary Progressive Aphasia in Italian and English: A Cross-Linguistic Cohort Study.Neurology · 2024Observational
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.Molecular neurodegeneration · 2024Review
- Primary progressive aphasia: six questions in search of an answer.Journal of neurology · 2024Review
- AI-assisted assessment and treatment of aphasia: a review.Frontiers in public health · 2024Review
- Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation.Alzheimer's research & therapy · 2023Article
- Tuberous sclerosis complex is associated with a novel human tauopathy.Acta neuropathologica · 2023Article
- Longitudinal clinical, cognitive and biomarker profiles in dominantly inherited versus sporadic early-onset Alzheimer's disease.Brain communications · 2023Article
- A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants inGenes · 2022Article
- Progranulin mutations in clinical and neuropathological Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Neuropathological fingerprints of survival, atrophy and language in primary progressive aphasia.Brain : a journal of neurology · 2022Article
- Case report: Non-Alzheimer's disease tauopathy with logopenic variant primary progressive aphasia diagnosed using amyloid and tau PET.Frontiers in neurology · 2022Article
- High-content image-based analysis and proteomic profiling identifies Tau phosphorylation inhibitors in a human iPSC-derived glutamatergic neuronal model of tauopathy.Scientific reports · 2021Article
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
Abstract
introductionPrimary progressive aphasia (PPA) is a neurological syndrome, associated with both frontotemporal dementia and Alzheimer's disease, in which progressive language impairment emerges as the most salient clinical feature during the initial stages of disease.
methodsWe screened the main genes associated with Alzheimer's disease and frontotemporal dementia for pathogenic and risk variants in a cohort of 403 PPA cases.
resultsIn this case series study, 14 (3.5%) cases carried (likely) pathogenic variants: four C9orf72 expansions, nine GRN, and one TARDBP mutation. Rare risk variants, TREM2 R47H and MAPT A152T, were associated with a three- to seven-fold increase in risk for PPA. DISCUSSION: Our results show that while pathogenic variants within the most common dementia genes were rarely associated with PPA, these were found almost exclusively in GRN and C9orf72, suggesting that PPA is more TDP43- than tau-related in our series. This is consistent with the finding that PPA frequency in dominantly inherited dementias is the highest in kindreds with GRN variants.
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