ArticleMolecular neurodegeneration2021
A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study.
Article in Molecular neurodegeneration, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Pooled it
- Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration.Brain : a journal of neurology · 2026Article
- CSF Aquaporin-4 levels in controls and in idiopathic normal pressure hydrocephalus before and after shunt surgery.Fluids and barriers of the CNS · 2026Article
- CSF protein biomarkers are associated with atrophy and symptom severity in genetic FTD: a GENFI study.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Ratios of CSF proteins reflect cognitive function in ALS.Alzheimer's research & therapy · 2026Article
- Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study.Molecular psychiatry · 2025Article
- Combined multi-omics and brain pathology reveal novel biomarkers for alzheimer's disease.Scientific reports · 2025Article
- Benchmarking the AI-based diagnostic potential of plasma proteomics for neurodegenerative disease in 17,170 people.medRxiv : the preprint server for health sciences · 2025Article
- Development and validation of a novel Simoa assay for NPTX2 in Alzheimer's disease and Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Addressing inter individual variability in CSF levels of brain derived proteins across neurodegenerative diseases.Scientific reports · 2025Article
- Biological signatures in the Alzheimer's continuum discriminate between diagnosis-related and -unrelated associations to ATN categories.Brain communications · 2025Article
- CSF levels of brain-derived proteins correlate with brain ventricular volume in cognitively healthy 70-year-olds.Clinical proteomics · 2024Article
- Multi-omics analysis reveals the key factors involved in the severity of the Alzheimer's disease.Alzheimer's research & therapy · 2024Article
- Mapping Knowledge Landscapes and Emerging Trends in AI for Dementia Biomarkers: Bibliometric and Visualization Analysis.Journal of medical Internet research · 2024Article
- Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due toInternational journal of molecular sciences · 2024Article
- Cerebrospinal fluid biomarker panel for synaptic dysfunction in a broad spectrum of neurodegenerative diseases.Brain : a journal of neurology · 2024Article
- Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study.Brain communications · 2024Article
- Altered plasma protein profiles in genetic FTD - a GENFI study.Molecular neurodegeneration · 2023Article
- Methods to Discover and Validate Biofluid-Based Biomarkers in Neurodegenerative Dementias.Molecular & cellular proteomics : MCP · 2023Article
- Cerebrospinal fluid biomarker panel of synaptic dysfunction in Alzheimer's disease and other neurodegenerative disorders.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
Corrections and comments
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Authors and funding
25 authors at 18 institutions in 8 countries.
Funding
Abstract
backgroundA detailed understanding of the pathological processes involved in genetic frontotemporal dementia is critical in order to provide the patients with an optimal future treatment. Protein levels in CSF have the potential to reflect different pathophysiological processes in the brain. We aimed to identify and evaluate panels of CSF proteins with potential to separate symptomatic individuals from individuals without clinical symptoms (unaffected), as well as presymptomatic individuals from mutation non-carriers.
methodsA multiplexed antibody-based suspension bead array was used to analyse levels of 111 proteins in CSF samples from 221 individuals from families with genetic frontotemporal dementia. The data was explored using LASSO and Random forest.
resultsWhen comparing affected individuals with unaffected individuals, 14 proteins were identified as potentially important for the separation. Among these, four were identified as most important, namely neurofilament medium polypeptide (NEFM), neuronal pentraxin 2 (NPTX2), neurosecretory protein VGF (VGF) and aquaporin 4 (AQP4). The combined profile of these four proteins successfully separated the two groups, with higher levels of NEFM and AQP4 and lower levels of NPTX2 in affected compared to unaffected individuals. VGF contributed to the models, but the levels were not significantly lower in affected individuals. Next, when comparing presymptomatic GRN and C9orf72 mutation carriers in proximity to symptom onset with mutation non-carriers, six proteins were identified with a potential to contribute to a separation, including progranulin (GRN).
conclusionIn conclusion, we have identified several proteins with the combined potential to separate affected individuals from unaffected individuals, as well as proteins with potential to contribute to the separation between presymptomatic individuals and mutation non-carriers. Further studies are needed to continue the investigation of these proteins and their potential association to the pathophysiological mechanisms in genetic FTD.
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