National Hospital for Neurology and Neurosurgery

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...

Diagnosis and management of transthyretin amyloidosis (ATTRv) across ATTRv-PN and mixed phenotype: an international delphi consensus

Abstract Background Transthyretin amyloidosis is a progressive, potentially fatal genetic disorder primarily associated with polyneuropathy (ATTRv-PN) or cardiomyopathy (ATTR-CM). Disease presentation is heterogenous. Patients often present with a mixed phenotype. Although recent...

Navigated Intraoperative Ultrasound in Functionally Eloquent Tumour Resection: A Descriptive Single-Centre Series Within the Modern Multimodal Neuro-Oncology Surgery Workflow

Background/Objectives: Navigated intraoperative ultrasound (N-ioUS) compensates for brain shift, but its place within a multimodal workflow alongside neuronavigation, 5-aminolevulinic acid (5-ALA) fluorescence and neurophysiological monitoring is not well defined. We describe fun...

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...

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)....

White matter dysfunction in Alzheimer’s disease: a convergence or divergence of hypotheses

Abstract Alzheimer’s disease (AD) is a multifactorial disease with several key hypotheses centred around its pathological hallmarks, including amyloid and tau and other mechanisms, such as vascular dysfunction. Revised criteria for AD diagnosis reflects these hypotheses and inclu...

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...

A brief acceptance and commitment therapy intervention for individuals at risk of neurodegenerative disease: A translational study in inherited prion disease

Living at risk of a neurodegenerative condition such as inherited prion disease (IPD) is associated with substantial psychological burden, yet evidence-based supportive interventions are lacking. This unmet need is likely to grow as advances in biomarkers and predictive testing l...

Generalizable and equitable automated ischaemic stroke lesion segmentation with vision transformers

Abstract Background Ischaemic stroke, a leading cause of death and disability, relies on neuroimaging for characterising the anatomical pattern of injury. Diffusion-weighted MRI (DWI) provides the most anatomically specific signal in acute ischaemic stroke but poses substantial c...

Frequency and Circumstances of Falls Events in People Living With Spinal and Bulbar Muscular Atrophy: A Cross‐Sectional Survey

BACKGROUND AND PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an adult-onset X-linked neuromuscular disorder associated with progressive weakness, sensory involvement and impaired mobility. Falls appear frequent in SBMA, but their real-world frequency and circumstances hav...

Neural sharpening of object categories through parafoveal priming

Abstract During natural vision, humans make saccades approximately every 250–300 ms to fixate on important objects in a scene. Given this rapid succession of eye movements, it has been proposed that visual processing begins in the parafovea, prior to fixation. Such parafoveal pre...

Oligodendroglial somatic SNCA copy number gains are associated with inclusions and disease onset in multiple system atrophy

Abstract Multiple system atrophy (MSA) is a rapidly progressive synucleinopathy of unknown aetiology with neuronal and oligodendroglial α-synuclein inclusions. We previously reported somatic copy number variants (CNVs), specifically gains of SNCA (encoding α-synuclein) in MSA bra...

Dorsoventral gradient of theta sweeps in the medial entorhinal cortex

Abstract During random foraging, the positional signal decoded from entorhinal grid cells exhibits left–right theta sweeps, alternating from one side of the heading direction to the other across successive theta cycles. Here, we report that theta sweeps are topographically organi...

Blood-based biomarkers of Alzheimer’s disease and neurodegeneration in an indigenous African cohort using both Simoa and NULISA platforms

Background: In low- and middle-income countries, Alzheimer's disease and related dementias (ADRD) constitute a growing public health burden. Indeed, the lack of awareness and easy screening tools, such as blood-based biomarkers, leaves many patients undiagnosed. In this study, we...

Autism and attention-deficit/hyperactivity disorder traits as predictors of tic phenomenology in children and adolescents

Abstract The co-existence of autism and attention deficit/hyperactivity disorder in tic disorders is a key factor influencing clinical decision-making. Given the shared clinical features and a potentially overlapping aetiology, the need to identify specific tic characteristics as...

The use of MYD88 and IGH polymerase chain reaction in the diagnosis and follow-up of Bing-Neel syndrome

Not available.

SurgAnt-ViVQA: learning to anticipate surgical events through GRU-driven temporal cross-attention

Abstract Purpose Anticipating forthcoming surgical events is vital for real-time assistance in endonasal transsphenoidal pituitary surgery, where visibility is limited and workflow changes rapidly. Most visual question answering (VQA) systems reason on isolated frames with static...

Presymptomatic plasma biomarkers in autosomal dominant Alzheimer’s disease: sequence and timing

Abstract Background Autosomal dominant Alzheimer’s disease (ADAD) serves as a model for presymptomatic biomarker discovery. Characterising the temporal profile of plasma biomarker levels in presymptomatic individuals may enhance understanding of disease pathogenesis, inform futur...

The Association of Umbilical Cord Blood Neurofilament Light With Nonreassuring Fetal Status: A Prospective Observational Study

( Int J Gynaecol Obstet . 2026 Mar;172(3):1491–1500. doi:10.1002/ijgo.70421) A prospective observational study explored whether neurofilament light (NfL), a marker of neuronal injury, can be reliably measured in umbilical cord blood and whether it is associated with nonreassuring...

Data-driven mapping of known and novel fluid biomarker progression profiles in genetic frontotemporal lobar degeneration

Abstract Introduction Recent proteomic studies have identified both established and novel proteins in genetic frontotemporal lobar degeneration (FTLD). However, it remains unclear at what point in the disease these proteins deviate from normal levels and how their trajectories re...