Volume 10 Issue 12, December 2014

Two recent studies highlight the importance of prompt, coordinated intervention after stroke. A meta-analysis confirms that intravenous thrombolysis is effective within 4.5 h of onset, irrespective of age (below or above 80 years) and stroke severity. Another study demonstrates successful reorganization of care through centralization of stroke services in England.

Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New studies demonstrate the favourable diagnostic yield of CES for both early-onset and adult-onset neurogenetic disorders. These studies demonstrate the strengths, limitations and potential of CES in neurology practice.

The knowledge of imaging and fluid biomarkers gained from longitudinal observational studies of Alzheimer disease has recently been translated to a cross-sectional study of randomly selected, cognitively unimpaired elderly individuals. This is the first time that a two-feature biomarker classification system has been applied to a population-based cohort.

Neuromyelitis optica spectrum disorders (NMOSD) can mimic multiple sclerosis (MS). Avoiding misdiagnosis is crucial, because some disease-modifying drugs for MS can aggravate NMOSD, causing blindness and paraplegia. A recent study reports that misdiagnosis of NMOSD as MS occasionally occurs, and that a two-step antibody assay could improve differential diagnosis.

Glioblastoma is the most common primary brain tumour in adults, but—unlike many other cancers—no blood-based biomarkers are available for differential diagnosis, estimation of prognosis or monitoring of treatment response in glioblastoma. New research has detected three proteins with potential clinical value in the blood of patients with glioblastoma.

Disruption of circadian rhythms in neurodegenerative disorders not only contributes to morbidity and poor quality of life, but could also be involved in driving the disease process itself. Restoration of circadian rhythmicity via behavioural or pharmacological interventions might, therefore, slow down disease progression. In this Review, Videnovic and colleagues provide an overview of the circadian system, and summarize current understanding of the dysfunction of circadian rhythms in Alzheimer disease, Parkinson disease and Huntington disease.

Chemotherapy-induced peripheral neuropathic pain (CIPNP) is a common and severe adverse effect of cytostatic drugs that can limit dose and choice of chemotherapy, and can lead to delay or discontinuation of cytostatic treatment. Most drugs that are in use for neuropathic pain have failed to alleviate CIPNP in clinical trials. Here, Sisignano et al. review the mechanisms through which the most commonly used cytostatic drugs cause CIPNP, and suggest mechanism-based treatment options.

Despite a wealth of data generated by neuroimaging research in Parkinson disease (PD), no imaging techniques are currently recommended for routine clinical use. In this Review, Marios Politis assesses the various PET, single-photon emission CT, MRI and other imaging modalities that could aid the differential diagnosis and assessment of patients with PD. He then looks to the future of neuroimaging, including newly developed radioligands and combined-modality approaches, and discusses how research and clinical practice might better address the needs of patients.

Genome-wide association studies (GWASs) are uncovering genetic variants that are associated with the risk of stroke, and with specific stroke subtypes. In this Review, Markus and Bevan explore the implications of these associations for predictive testing, clinical management and new therapeutic approaches, as well as insights into stroke pathophysiology. They also outline considerations for future studies, so as to maximize the potential of GWASs.