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In this Review, the authors discuss the unique challenges involved in performing genetic testing for primary mitochondrial diseases and consider the value of advanced approaches such as long-read sequencing, RNA sequencing and the interpretation of transfer RNA variants.
Biomarkers of epileptogenesis would enable identification of individuals who are risk of developing epilepsy after an insult or as a result of a genetic defect. In this article, Simonato et al. review progress towards such biomarkers and set out a five-phase roadmap to facilitate their development.
Intraventricular haemorrhage (IVH) is a complication of preterm birth associated with neurodevelopmental sequelae. Here, Ballabh and de Vries review the mechanisms underlying IVH-induced white matter injury, focusing on its effects on oligodendrocyte progenitor cells, and discuss promising novel treatments for IVH-induced white matter injury.
In this article, members of the International Progressive MS Alliance discuss why experimental medicine trials are important for the development of treatments for progressive multiple sclerosis and set out their funding programme for such trials.
New tools are being developed for the standardization and digitization of clinical data from patients with multiple sclerosis. In this Perspective, D’Souza and colleagues address the multifaceted impact of these tools on patient care and highlight the challenges and opportunities they create.
In this Review, Chard and colleagues consider the effects that multiple sclerosis pathology has on brain networks and discuss the ways in which knowledge of brain network changes could inform the targeting of treatments for the condition.
This year, the COVID-19 pandemic has altered neurological care in many ways. However, evidence indicates that people from marginalized ethnic and socioeconomic groups have been affected by these changes more than others, highlighting and amplifying existing health-care disparities.
As the COVID-19 pandemic developed and neurological manifestations were reported, concern grew that SARS-CoV-2 might directly invade neuronal cells. However, research throughout the year to address this concern has revealed a different story with inflammatory processes at its centre.
The COVID-19 pandemic has posed unique risks to people with Alzheimer disease and dementia. Research from 2020 has shown that these people have a relatively high risk of contracting severe COVID-19, and are also at risk of neuropsychiatric disturbances as a result of lockdown measures and social isolation.
