News & Views in 2013

A population-based study of babies who were exposed to antiepileptic drugs (AEDs) in utero revealed impairment of fine motor and social skills as early as 6 months of age. Such neurocognitive changes were independent of breastfeeding status at 18 months, suggesting that breastfeeding can be recommended in women receiving AEDs.

Medulloblastomas can be categorized into four molecular subgroups. A new report shows, for the first time, that these tumours remain in the same subgroup at relapse, and the molecular subgroup influences the pattern of relapse. These findings indicate that this developmentally defined classification is robust, although its relationship to prognosis remains uncertain.

A key challenge to improving the design of clinical trials in Huntington disease (HD) has been the limited data on the natural history of HD. A recent prospective longitudinal study has provided important information in this regard, which could be useful for future translation of disease-modifying therapies for early-stage HD.

According to a new systematic review, placebo treatment in clinical trials of migraine prophylaxis results in responder rates ranging from 0–56%, probably owing to variable combinations of spontaneous improvement and genuine placebo effects. Clinicians who treat patients with migraine should be aware of the potential nonspecific effects of any treatment modality.

Gilles de la Tourette syndrome (GTS) is often perceived as the 'swearing disease', yet coprolalia affects only 10–15% of individuals with this condition. As highlighted in a new study, GTS has many phenotypes, some of which are sex-related. Could gender—that is, culturally established roles—also affect the phenotype?

Increasing evidence suggests that Parkinson disease (PD) should be included on the growing list of diseases associated with vitamin D insufficiency. A recent study reconfirms this association and supports the monitoring of vitamin D concentrations in patients with PD. The conundrum of causality regarding this association, however, remains unanswered.

Survivors of critical illness can experience substantial morbidity long after the event. Recent findings provide further support that long-term cognitive impairment is frequent in these patients, and that in many cases, delirium due to encephalopathy has a causal role in its development.

Currently approved multiple sclerosis (MS) treatments mainly target the peripheral immune system, thereby reducing relapse rates and MRI markers of inflammation. A recent phase III trial indicates that laquinimod, a new orally active immunomodulator, has a CNS-intrinsic mode of action that is independent of effects on the peripheral immune response.

Increasing use of brain monitoring via continuous EEG in intensive care units has revealed that subclinical seizures are common among adults and children with acute brain injury. Subclinical seizures are associated with worse outcomes, but whether their prompt detection and treatment improves outcomes remains a pressing clinical question.

Chronic cerebrospinal venous insufficiency (CCSVI) has been proposed as a cause of multiple sclerosis (MS). However, two new studies found a very low overall prevalence of definite CCSVI, and no association with MS. The data confirm that the ultrasound findings of CCSVI are extremely variable, subjective, and based on major methodological flaws.

Patients with epilepsy have a higher mortality rate than the general population. A recent population-based study has found that external causes of death, such as suicide and accidental deaths of various types, account for 16% of the deaths in these patients, and that psychiatric comorbidity contributes significantly to their occurrence.

A recent study has examined potential predictive markers of Alzheimer disease (AD) and stroke. The results challenge some current assumptions, suggesting that stroke might often follow a decade of deterioration in brain structure and function, and that cognitive and MRI markers of AD differ in older and younger individuals.

The Alzheimer's Disease Neuroimaging Initiative (ADNI) study protocol currently precludes disclosure of test results to participants. A survey among ADNI investigators, however, demonstrates that most want this policy changed, in light of the approval of ¹⁸F-florbetapir as a PET amyloid ligand. Should we tell the study participants if they want to know?

Identification of the key factors involved in glioblastoma oncogenesis is a necessary precursor to the development of efficient and personalized, targeted therapy. Combining data from high-throughput genetic screening, bioinformatic analysis and functional studies, a multicentre research collaboration has identified new driving mutations in glioblastoma, including novel tumour suppressor and fusion oncogenes.

New research indicates that next-generation sequencing (NGS) can improve the diagnostic yield in a highly selected group of patients with ataxia, following comprehensive exclusion work-up of other causes. However, routine practical application of NGS will depend on refinement of current technologies to facilitate data interpretation, and cost-effectiveness analysis in different patient groups.

An evidence-based guideline update on vagus nerve stimulation for treatment of epilepsy supports consideration of its use in children, in patients with Lennox–Gastaut syndrome, and to improve mood in adults. Its efficacy may also increase over prolonged treatment. These conclusions are tentative, however, highlighting our knowledge gaps.

In patients with chronic epilepsy, MRI-based detection of an underlying brain lesion can offer the potential for surgical treatment, but a substantial proportion of patients have normal MRI scans. A recent study has shown that repeat neuroimaging with improved MRI technology can enable detection of previously unidentified epileptogenic lesions.

Gene therapy approaches for glioblastoma multiforme (GBM) have been under investigation in clinical trials since the 1990s, but the results to date have been disappointing. A recently published phase III trial of adenovirus-based gene therapy for GBM has demonstrated modest—but possibly clinically relevant—improvements in patient survival.

Patients with transient ischaemic attack or minor ischaemic stroke have a high risk of early recurrence. A new study in Chinese patients suggests that this risk is reduced following treatment with clopidogrel plus aspirin compared with aspirin alone. However, whether the findings can be extrapolated to other populations remains unclear.

The heterogeneity of traumatic spinal cord injury necessitates large clinical trials to differentiate natural improvements from enhanced recovery due to therapeutic intervention. Recent development of an imaging biomarker to visualize changes in the corticospinal motor system could offer the opportunity to directly visualize anatomical evidence of repair, regeneration and plasticity.