UCL Queen Square Institute of Neurology

Exploring transcriptomic and genomic latent variable correction approaches in differential expression analysis

Abstract Background Differential expression analysis is a central tool for studying the biological processes altered in human diseases via transcriptomic signatures. However, transcriptomic datasets are systematically confounded by latent variables from two distinct sources: unme...

Polygenic Risk Scores in Alzheimer’s Disease: A Cross-Scale View from Genes to Brain and Behavior

Alzheimer’s disease (AD) is a genetically complex disorder in which inherited susceptibility is distributed across rare high-impact variants, the apolipoprotein E (APOE) locus, and a broad polygenic background of common risk alleles. Polygenic risk scores (PRSs) provide a quantit...

Opioid use, disability, and patient‐reported cognitive impairment in migraine: Multi‐country results from the Chronic Migraine Epidemiology and Outcomes—International Study

OBJECTIVE: To characterize the population who do and do not use opioids to treat migraine in the Chronic Migraine Epidemiology and Outcomes-International (CaMEO-I) Study. BACKGROUND: Opioids are not recommended for migraine treatment because of efficacy and safety limitations. ME...

Taking a clinical history in adolescents and adults presenting with seizures or epilepsy

Abstract Despite advances in EEG, neuroimaging, and other diagnostic technologies, a carefully obtained clinical history remains the cornerstone of diagnosis, classification, and treatment planning. However, structured guidance on history‐taking that integrates state‐of‐the‐art e...

Protocol for genome-wide differential methylation using long-read DNA sequencing in the cortex of a mouse model of Alzheimer’s disease

Third-generation sequencing enables direct detection of genome-wide 5-methylcytosine without bisulfite conversion. Here, we present a protocol for generating long-read DNA sequencing from mouse cortex and performing genome-wide differential methylation analysis. We describe steps...

Neurodegenerative disease risk associated with gene expression in peripheral monocytes across ancestries

Abstract It is hypothesised that peripheral immune states responding to regional environmental triggers contribute to central neurodegeneration. Region-specific genetic selection pressures require this hypothesis to be assessed in an ancestry-specific manner. Here, we utilise gen...

Hypokinesia and bradykinesia in Parkinson’s disease are consistent with reduced motor vigour, not an impaired capacity to generate and transmit neural drive to muscle

Abstract Hypokinesia and bradykinesia in Parkinson’s disease have been attributed to reduced motor vigour, an account that assumes the neural drive to muscle is intact but inappropriately scaled; an alternative is that generation of the drive is itself impaired. We recorded high-...

MRI Characteristics of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease

Importance Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a demyelinating disease distinct from multiple sclerosis (MS) and aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4+NMOSD). Magnetic resonance imaging (MRI) is central t...

Test-retest reliability of plasma biomarkers and digital cognitive metrics at clinically meaningful timescales

Abstract Background Digital cognitive testing and plasma biomarkers have emerged as key players for population screening and measuring drug efficacy in clinical trials for Alzheimer’s Disease (AD). Understanding test-retest reliability of these tools is essential to estimate mean...

Real-world adjunctive use of an alpha-lactalbumin/sodium butyrate Food for Special Medical Purposes in drug-resistant epilepsy: the multicentre retrospective ARMILLA study

The purpose of this study was to describe real-world adjunctive use, tolerability, and hypothesis-generating seizure and multidomain outcomes of LALBAAY, an alpha-lactalbumin/sodium butyrate Food for Special Medical Purposes (FSMP), in patients with drug-resistant epilepsy (DRE)....

Association Between Genetic Ancestry and Multiple Sclerosis Severity

OBJECTIVE: The objective of this study was to determine whether genetic ancestry is associated with differences in the clinical course of multiple sclerosis (MS). METHODS: Participants with MS living in the United Kingdom >18 years old were recruited from 2021 to 2025 and genotyp...