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As yet, no clear strategy has been developed for discontinuation of disease-modifying therapy in multiple sclerosis. A recent observational study adds new information, but the most informative patient groups are still to be assessed comprehensively, and several questions need to be addressed in prospective studies.
Guide RNA-mediated CRISPR–Cas nucleases are a powerful technology for the engineering of mammalian genomes. CRISPR–Cas9-dependent editing of mutated genes that cause Huntington disease and fragile X syndrome was recently achieved in cell-based models, heralding the first step towards developing this technology into viable therapeutics for neurological diseases.
A new systematic review detected strong evidence of unreliable results via use of statistical and logical analyses of 33 randomized clinical trials. Our outrage at these rare occurrences of potential fraud could be rooted in our disdain at our failures in peer review, given that this special effort was required to detect long-running potential fraud.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly affecting upper and lower motor neurons. Here, the authors outline previous and current efforts to characterize genes that are associated with ALS, and describe what is currently known about the genetic architecture of ALS.
The majority of patients who receive radiotherapy for brain tumours go on to develop disability, but the pathophysiological mechanisms of radiation-associated cognitive decline remains poorly understood. Here, Makale and colleagues review animal model and patient data on the mechanisms of radiotherapy-associated CNS damage and posit that early damage — occurring before 6 months after irradiation — contributes to long-term cognitive disability.
Rett syndrome (RTT) is a rare, progressive neurodevelopmental disorder that almost exclusively affects girls, and is caused by a mutation in theMECP2gene. The authors highlight major milestones in RTT over the past 50 years, and acknowledge the international collaborations that are driving this research programme.
Lifestyle and environmental factors, some which are potentially modifiable, have important roles in the risk of multiple sclerosis (MS), and some of these risk factors, such as Epstein–Barr virus infection, smoking and obesity in adolescence, interact with genetic risk factors. Here, Olsson and colleagues summarize recent data on modifiable environmental and lifestyle factors in MS, with a focus on gene–environment interactions.
Cryptococcal meningitis is a major cause of morbidity and mortality in immunocompromized individuals, and, even in apparently immunocompetent individuals, carries a high risk of mortality. Treatment in immunocompromized patients is challenging because these patients are at risk of immune reconstitution inflammatory syndrome (IRIS). This Review summarizes the diagnosis and treatment of cryptococcal disease in various disease.
New therapies are much needed for Duchenne muscular dystrophy. Recent data from a phase II clinical trial has led to accelerated FDA approval of the exon-skipping drug eteplirsen. This approval is provisional, pending results of an ongoing phase III clinical trial, and came after much debate.
A cross-sectional community-based study shows that strictly lobar cerebral microbleeds are associated with cognitive impairment, and might be a surrogate marker for early small-vessel injury. The anatomical distribution of cerebral microbleeds suggests that cerebral amyloid angiopathy (with or without Alzheimer disease) might have a key role in early cognitive impairment.