Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
Understanding how genetic variation can confer susceptibility to neurological disease is an urgent priority. A new gene-expression study has explored the relationship between DNA sequence variation at the microtubule-associated protein tau (MAPT) locus and MAPT expression in the brain, providing an exciting new paradigm for the field.
Recent studies suggest that advances in medical therapy have reduced the risk of stroke in patients with major cerebral artery disease, but does this trend apply to those with misery perfusion? A new study indicates that these patients remain at very high risk, highlighting the unmet need for a preventative treatment.
An evidence-based update to the 2004 guidelines for the treatment of infantile spasms has recently been published. Important new recommendations include use of low-dose adrenocorticotropic hormone (ACTH) over high-dose ACTH or vigabatrin. A paucity of data, however, leaves several key questions unanswered.
Restrictions to thrombolytic therapy for stroke—recommended only up to 4.5 h after onset and in those under 80 years of age—limit its use. Results from a recent trial support expansion of both the inclusion criteria and the time window for thrombolytic therapy, but further research is needed.
Over the past two decades, trials of citicoline for treatment of acute stroke have produced conflicting results. A recent large clinical trial of citicoline in acute stroke suggests a lack of efficacy of this therapy, seemingly signalling the end to the citicoline saga.
Multiple sclerosis (MS) is an inflammatory disorder of the CNS, with downstream effects on body structures and function, and patient activities, as outlined in the International Classification of Functioning, Disability and Health (ICF) model of MS. Focusing on the ICF outcomes, Motl and Pilutti review evidence regarding the benefits of exercise training in patients with MS, highlighting the mechanistic pathways that may mediate these effects, and discussing issues and future research in this field.
EEG source imaging (ESI) is a technique designed to predict the source of a given field potential obtained using EEG. Kaiboriboonet al.describe the principles and technical aspects underlying ESI in epilepsy. They discuss the practicalities and pitfalls of ESI in the clinical setting, specifically for epileptic source localization and identification of the eloquent cortex—two important considerations when planning resective surgery in patients with refractory epilepsy.
Next-generation sequencing approaches are becoming increasingly affordable for use in the clinical setting, and have the potential to provide valuable insights into the genetic underpinnings of complex neurological diseases. In this Review, Foo et al. discuss how whole-genome and whole-exome sequencing data can be deciphered, and consider how such data might be used for diagnosis and risk prediction in the neurology clinic.
Gene expression profiling (GEP) has advanced considerably in the past 5 years, and has been used to study differential gene expression associated with various neurological disorders. In their Review, Shaw and colleagues review recent GEP studies in amyotrophic lateral sclerosis, Parkinson disease and Alzheimer disease. The findings have highlighted involvement of shared and distinct pathways across diseases, and point to possible biomarkers and therapeutic targets that could improve future diagnosis and treatment.
