ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2024
Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Neuronal PPP2R5C in plasma is a potential biomarker for early diagnosis of Alzheimer's disease.Cell reports. Medicine · 2026Article
- Free water changes and their correlations with multimodal biomarkers in frontotemporal dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Clinical validation of new alzheimer disease diagnosis tools based on plasma p-Tau217.Scientific reports · 2025Article
- Development of language composites for enhanced sensitivity to multiple plasma biomarkers.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Analyses of NOTCH3 variants in Chinese patients with clinically diagnosed Alzheimer's disease and frontotemporal dementia.Alzheimer's research & therapy · 2025Article
- Glymphatic activity in behavioral variant frontotemporal dementia: Link with vascular function and astrocytic activation.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Spotlight on Alzheimer's disease and related dementias research in East Asia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer's disease.Frontiers in genetics · 2025Article
- Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- TARDBP gene mutation in a Chinese family with frontotemporal dementia: A case report and literature review.Journal of Alzheimer's disease reportsArticle
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13 authors.
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Abstract
introductionFrontotemporal dementia (FTD) is characterized by phenotypic and genetic heterogeneities. However, reports on the large Chinese FTD cohort are lacking.
methodsTwo hundred forty-eight patients with FTD were enrolled. All patients and 2010 healthy controls underwent next generation sequencing. Plasma samples were analyzed for glial fibrillary acidic protein (GFAP), α-synuclein (α-syn), neurofilament light chain (NfL), and phosphorylated tau protein 181 (p-tau181).
resultsGene sequencing identified 48 pathogenic or likely pathogenic mutations in a total of 19.4% of patients with FTD (48/248). The most common mutation was the C9orf72 dynamic mutation (5.2%, 13/248). Significantly increased levels of GFAP, α-syn, NfL, and p-tau181 were detected in patients compared to controls (all p < 0.05). GFAP and α-syn presented better performance for diagnosing FTD. DISCUSSION: We investigated the characteristics of phenotypic and genetic spectrum in a large Chinese FTD cohort, and highlighted the utility of plasma biomarkers for diagnosing FTD. HIGHLIGHTS: This study used a frontotemporal dementia (FTD) cohort with a large sample size in Asia to update and reveal the clinical and genetic spectrum, and explore the relationship between multiple plasma biomarkers and FTD phenotypes as well as genotypes. We found for the first time that the C9orf72 dynamic mutation frequency ranks first among all mutations, which broke the previous impression that it was rare in Asian patients. Notably, it was the first time the C9orf72 G4C2 repeat expansion had been identified via whole-genome sequencing data, and this was verified using triplet repeat primed polymerase chain reaction (TP-PCR). We analyzed the diagnostic accuracy of four plasma biomarkers (glial fibrillary acidic protein [GFAP], α-synuclein [α-syn], neurofilament light chain [NfL], and phosphorylated tau protein 181 [p-tau181]) at the same time, especially for α-syn being included in the FTD cohort for the first time, and found GFAP and α-syn had the highest diagnostic accuracy for FTD and its varied subtypes.
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