ArticleBrain : a journal of neurology2020
Blood and brain gene expression trajectories mirror neuropathology and clinical deterioration in neurodegeneration.
Article in Brain : a journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The Role of MicroRNA in Diagnosis of Huntington's Disease: A Systematic Review.Molecular neurobiology · 2026Pooled it
- Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application.Molecular neurodegeneration · 2022Pooled it
- Peripheral blood transcriptomic signature is associated with cognitive impairment and freezing of gait in Parkinson's disease: a data-driven approach.NPJ Parkinson's disease · 2026Article
- Contrastive Machine Learning to Quantify Hypertensive Multiorgan Damage and Identify New Disease Phenotypes: A Multinational Multimodal Study.Circulation · 2026Article
- Genetic Associations with Temporal Modeling of Alzheimer's Disease Progression Supports a Novel Paradigm for Disease Risk.medRxiv : the preprint server for health sciences · 2026Article
- Associations of stable psychological traits with multi-omic subtypes of Alzheimer's dementia.Translational psychiatry · 2026Article
- Peripheral blood microarray-based transcriptomic and epigenetic analyses identify immune, inflammation, and metabolic dysregulation in Alzheimer's disease.NPJ dementia · 2026Article
- Molecular and neuropathological determinants of neuronal dysfunction in Alzheimer's disease.bioRxiv : the preprint server for biology · 2025Article
- Multimodal Neuroimaging-Guided Stratification in Amyotrophic Lateral Sclerosis Reveals Three Disease Subtypes: A Multi-Cohort Analysis.Human brain mapping · 2025Article
- Mitochondrial methylcytosines as blood-based biomarkers for Alzheimer's disease dementia prognosis.iScience · 2025Article
- Translating the Post-Mortem Brain Multi-Omics Molecular Taxonomy of Alzheimer's Dementia to Living Humans.bioRxiv : the preprint server for biology · 2025Article
- Maternal epigenetic index links early neglect to later neglectful care and other psychopathological, cognitive, and bonding effects.Clinical epigenetics · 2025Article
- Transcriptomic predictors of rapid progression from mild cognitive impairment to Alzheimer's disease.Alzheimer's research & therapy · 2025Article
- Sex-specific gene expression and weighted co-expression network analysis suggest distinct sex-specific molecular signatures in acutely suicidal MDD-patients without somatic comorbidities.Frontiers in genetics · 2025Article
- Beyond the usual suspects: multi-factorial computational models in the search for neurodegenerative disease mechanisms.Translational psychiatry · 2024Review
- The mRNA content of plasma extracellular vesicles provides a window into molecular processes in the brain during cerebral malaria.Science advances · 2024Article
- Neural network mapping of gelastic behavior in children with hypothalamus hamartoma.World journal of pediatrics : WJP · 2024Article
- Distinctive whole-brain cell types predict tissue damage patterns in thirteen neurodegenerative conditions.eLife · 2024Article
- A multi-cohort study of the hippocampal radiomics model and its associated biological changes in Alzheimer's Disease.Translational psychiatry · 2024Article
- Temporal changes of gene expression in health, schizophrenia, bipolar disorder, and major depressive disorder.Schizophrenia (Heidelberg, Germany) · 2024Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Most prevalent neurodegenerative disorders take decades to develop and their early detection is challenged by confounding non-pathological ageing processes. For all neurodegenerative conditions, we continue to lack longitudinal gene expression data covering their large temporal evolution, which hinders the understanding of the underlying dynamic molecular mechanisms. Here, we overcome this key limitation by introducing a novel gene expression contrastive trajectory inference (GE-cTI) method that reveals enriched temporal patterns in a diseased population. Evaluated on 1969 subjects in the spectrum of late-onset Alzheimer's and Huntington's diseases (from ROSMAP, HBTRC and ADNI datasets), this unsupervised machine learning algorithm strongly predicts neuropathological severity (e.g. Braak, amyloid and Vonsattel stages). Furthermore, when applied to in vivo blood samples at baseline (ADNI), it significantly predicts clinical deterioration and conversion to advanced disease stages, supporting the identification of a minimally invasive (blood-based) tool for early clinical screening. This technique also allows the discovery of genes and molecular pathways, in both peripheral and brain tissues, that are highly predictive of disease evolution. Eighty-five to ninety per cent of the most predictive molecular pathways identified in the brain are also top predictors in the blood. These pathways support the importance of studying the peripheral-brain axis, providing further evidence for a key role of vascular structure/functioning and immune system response. The GE-cTI is a promising tool for revealing complex neuropathological mechanisms, with direct implications for implementing personalized dynamic treatments in neurology.
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