A. Al-Chalabi

Sex-dependent DNA methylation in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) shows well-established sex differences in incidence, age at onset and progression, but their biological basis is unclear. We hypothesised that the DNA methylation changes associated with ALS differ between the sexes, which would point to sex-specific disease processes. To test this,...

TRICALS risk score augments but cannot replace neurofilament as a prognostic biomarker in ALS

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder with substantial clinical heterogeneity, complicating the design and interpretation of clinical trials. Two strategies have been proposed to address this variability: phenotype-based prognostic modelling and biomarker-based stratification using neurofi...

Enrichment of Repeat Expansions in FGF14 Associated with Amyotrophic Lateral Sclerosis

Progress towards a biotypic biomarker profile for amyotrophic lateral sclerosis-frontotemporal spectrum disorders.

An international workshop was convened in London, Canada in 2025 to review the evidence for existing or evolving biomarkers suitable for the detection of either ALS or FTD pathobiology prior to phenoconversion and/or predict phenoconversion in at risk individuals.

Towards a deep-learning genomic tool for risk stratification and diagnostic support in sporadic ALS

A new model is developed that is validated across diverse ALS populations, can handle discrepancies between genotyping technologies, and is applicable to individual external samples, and has the potential to extend genetic risk assessment to all individuals, regardless of their family history or the presence of known A...

TDP-43-Associated Neurodegenerative Disease Conceptualization and Integrated Staging: A Review.

A pathobiological definition of disease is proposed to provide a road map for developing biomarkers that accurately reflect the underlying pathobiology of disease and for advancing therapeutic candidates that effectively target fundamental disease mechanisms.