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APOE alleles account for most late-onset Alzheimer’s disease burden, with the ε3 allele increasing risk versus ε2 and ε3/ε4 together explaining the majority in populations with reliable data.
Oxford University Press · Neuroscience · ISSN 0006-8950, 1460-2156
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AI summary · may contain errors
APOE alleles account for most late-onset Alzheimer’s disease burden, with the ε3 allele increasing risk versus ε2 and ε3/ε4 together explaining the majority in populations with reliable data.
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In a prospective cohort of 27 bvFTD patients versus 25 bvFTD false-positives, patient–clinician insight discrepancy discriminated groups with AUC 0.99 (95% CI 0.97–1.00).
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Right frontal lesions and right-dominant frontal cortico-subcortical structural disconnection are most strongly associated with post-stroke depressive symptoms across 1,864 stroke patients.
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In treatment-naïve Guillain-Barré syndrome, CSF shows compartmental enrichment of Th1-polarized CD4+ and activated/resident-memory CD8+ T cells plus macrophages, exceeding healthy controls.
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In baboons, intrastriatal injection of patient-derived α-synuclein aggregates increases phosphorylated tau pathology, with LA (n = 18) and SA (n = 12) both exceeding controls.
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Single-cell RNA-seq of an HD-positive human fetal striatum identified 2,032 differentially expressed genes across nine cellular clusters, with pathway dysregulation varying by cluster.
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A CHCHD10 p.R15L family shows a highly stereotyped flail arm syndrome phenotype, with ~4-fold elevated CHCHD10 protein in CSF and cervical-biased CHCHD10 aggregation.
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Caudal locus coeruleus neuromelanin signal is reduced in Parkinson’s disease, and this structural loss is linked to orthostatic hypotension and cognitive impairment.
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In temporal cortex from 18 FTLD-TDP C patients, 6322 differentially expressed genes and five disease-related WGCNA modules show downregulated postsynaptic processes after tau-gene removal and cell deconvolution.
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Plasma neuron-derived extracellular vesicles carrying tau species distinguish progressive supranuclear palsy from Parkinson’s disease and healthy controls, with AUCs up to 0.990 in validation.
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In Drosophila CMT-YARS1 models and the Yars1E196K mouse model, tyrosyl-tRNA sequestration by mutant TyrRS depletes free tRNATyr, causing ribosome stalling at tyrosine codons.
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Concurrent deletion of Akt1 and Akt3 isoforms in murine neurons is sufficient to rescue PTEN-loss–driven hypertrophic morphology and physiology, implicating AKT as the essential mediator.
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The 2024 McDonald diagnostic criteria for multiple sclerosis broaden acceptable evidence, but their safe use outside expert centres is uncertain given variable imaging, labs, and interpretation.
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AAV9-delivered tandem artificial microRNAs targeting HML-2 env in an HML-2 Env transgenic mouse model reduces HML-2 Env expression and ALS-like pathology at 84 days post-injection.
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Epileptic seizures and parasomnias are linked to uncommon aggressive behaviour, with peri-ictal and sleep-related violence posing forensic risks despite limited true “acts of violence.”
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In 22 patients with anterior nucleus of the thalamus (ANT) deep brain stimulation for drug-refractory epilepsy, responders show distinct ANT spectral trajectories over 4 years, including higher β1/θ ratios.
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AxxA6 tau knock-in mice, with proline-to-alanine changes in the sixth PxxP motif, show kainic acid seizure resistance and improved REM beta power and sleep.
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Antisecretory factor (Salovum®) reduced 30-day mortality in adults with isolated severe traumatic brain injury, from 39% to 20% in a Cape Town phase II trial.
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SuStaIn applied to multimodal 3 T MRI in 1017 multiple sclerosis patients identifies four reproducible MRI subtypes—lesion-led (44%), cortex-led (23%), tract-led (23%), and deep grey matter/cerebellar-led (10%).
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Adoptive T cell therapies are positioned as “living drugs” that can expand, adapt, and persist in vivo, with rapid preliminary reports and trials in nervous system inflammatory and infectious diseases.
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