News & Views in 2020

Although common, post-traumatic headache remains poorly understood and poorly treated. New data have implicated calcitonin gene-related peptide and the trigeminovascular system in this disorder, opening up new avenues for research into its pathophysiology and treatment.

A genome-wide association study has identified the first risk factors for sporadic prion disease other than mutations of PRNP, which encodes prion protein. These hits could open up new fronts in prion biology, risk prediction, and drug development.

B cell-depleting agents are emerging as important disease-modifying drugs for multiple sclerosis, but their effectiveness in relation to established treatments remains uncertain. To cast light on this issue, several studies have provided head-to-head comparisons of the anti-CD20 antibody rituximab with natalizumab, fingolimod and dimethyl fumarate in patients with multiple sclerosis.

With the advent of disease-modifying therapies for spinal muscular atrophy, prenatal and extra-neural alterations associated with the condition have garnered increasing attention as potential determinants of the therapeutic window and efficacy of novel drugs. Two recent studies highlight the impact of spinal muscular atrophy on prenatal bone and organ development.

A new meta-analysis of placebo-controlled trials of calcitonin gene-related peptide (CGRP) antibodies for migraine has shown that the direct biological effects of these treatments beyond the effects of placebo are modest, raising questions about how the ‘true value’ of these and other drugs are assessed.

Neurological soft signs (NSS) are minor motor and sensory changes that accompany the typical psychopathological symptoms and neuropsychological deficits that manifest in the early stages of schizophrenia. A new study provides evidence that NSS in early schizophrenia predict the long-term clinical outcomes of this condition.

The Nigerian Parkinson Disease registry is the first published national Parkinson disease registry in sub-Saharan Africa. Though the clinical data and number of participants are currently limited in comparison with European, North American and Asian equivalents, this registry represents a valuable resource for the field.

A recent study describes the yield and clinical utility of epilepsy gene panel testing in a cohort of adults with epilepsy and intellectual disability. These findings are similar to those in children with developmental epileptic encephalopathies and support the utility of testing in this subgroup of adults with epilepsy.

A new meta-analysis indicates that multiple sclerosis disease-modifying therapies (DMTs) have positive effects on cognition. High-efficacy and medium-efficacy DMTs apparently had comparable cognitive benefits; however, limitations of the original studies, including brief duration, restricted assessment and failure to account for baseline cognitive impairment, might limit the interpretation of the findings.

Genome-wide association studies (GWASs) have identified multiple loci associated with Parkinson disease; however, most of these studies were carried out in North American or European populations. A large-scale GWAS in East Asian populations has now identified two novel Parkinson disease-associated loci, which could improve risk prediction in Asian individuals.

Combined assessment of latest-generation molecular and MRI biomarkers has provided insight into the dynamics of brain volume loss after immunoablative autologous haematopoietic stem cell transplantation in multiple sclerosis, shedding light on the transient neurotoxic effects of this procedure.

The COVID-19 pandemic has added an additional layer of complexity to endovascular treatment (EVT) for acute ischaemic stroke. Drawing on recently published guidelines, this article provides a conceptual framework for EVT in the COVID-19 era, outlining key principles for ensuring safe and timely EVT while minimizing the risk of infectious exposure for health-care workers and patients.

A recently published consensus statement from the European Academy of Neurology provides new guidance on the diagnosis and management of monogenic cerebral small vessel diseases. Despite a lack of high-quality evidence, the recommendations are likely to be useful to all clinicians involved in the diagnosis and treatment of these conditions.

Disorders of consciousness (DOCs), including vegetative and minimally conscious states, represent a financial, medical and ethical conundrum. Recently published guidelines for the diagnosis, prognosis and treatment of DOCs should lead us to reconsider our management strategies for these challenging disorders.

An understanding of the biochemical processes underlying Parkinson disease (PD) will be essential for the development of disease-modifying therapies. In a recent study, a novel biochemical phenotype of the disease was identified from analysis of inducible pluripotent stem cell-derived dopaminergic neurons from individuals with young-onset PD.

Muscle imaging is increasingly important in the management of neuromuscular diseases, and techniques are becoming ever more sophisticated. Three new studies demonstrate the advances being made in diagnostic and quantitative muscle imaging, including the incorporation of artificial intelligence for image analysis.

Myasthenia gravis (MG) is an autoimmune neuromuscular disorder that has proved difficult to study owing to its rarity. A recent report from a large Spanish registry has provided new insights into the clinical features and management of MG, particularly in individuals aged ≥65 years.

Mortality from neurodegenerative disease is high among professional soccer players, potentially associated with repeated head impacts during routine gameplay. New data suggest that the apolipoprotein E ε4 allele might exacerbate the effects of soccer ball heading on cognition. However, genotyping of athletes to determine their dementia risk remains a distant prospect.

A new study shows that interactions of the cellular prion protein with amyloid-β, tau and α-synuclein oligomers are important in mediating the toxicity of these proteins in Alzheimer disease and Parkinson disease. The findings suggest a shared pathway that could be a therapeutic target common to multiple neurodegenerative diseases.

A new study has identified an association between socioeconomic status and the risk of disability in individuals with multiple sclerosis. The findings highlight the importance of collecting large, structured datasets for the study of modifiable risk factors.