Bettencourt and colleagues address the possible relationships among known spinocerebellar ataxia (SCA) genes, predict their functions, identify overlapping pathways, and provide a framework for candidate gene discovery using whole-transcriptome expression data. They identified significant cell types and pathways in SCA pathogenesis. Editorial perspective is provided by Stefan M. Pulst, MD, and Lance T. Pflieger, BS.
Llufriu and coauthors evaluate the potential of magnetic resonance spectroscopy (MRS) markers of central nervous system injury to predict brain-volume loss and clinical disability in multiple sclerosis (MS). They find that the myo-inositol to N-acetylaspartate ratio in normal-appearing white matter has consistent predictive power on brain atrophy and neurological disability evolution. An editorial viewpoint on the significance of the findings is provided by David H. Miller, MD.
The Stroke Prognostication using Age and the NIH Stroke Scale index, created by combining age in years plus a National Institutes of Health (NIH) Stroke Scale score of 100 or higher (and hereafter referred to as the SPAN-100 index), is a simple risk score for estimating clinical outcomes for patients with acute ischemic stroke (AIS). Ovbiagele et al assess the relationship between SPAN-100 index status and outcome following treatment with intravenous thrombolysis for AIS. They show that, compared with the SPAN-100–negative patients with AIS, the SPAN-100–positive patients with AIS seem to have poorer 3-month outcomes but may derive greater benefit when treated with intravenous thrombolysis.
Continuing Medical Education
Kester and colleagues determine associations between small-vessel disease and Alzheimer disease. They conclude that deposition of amyloid appears aggravated in patients with cerebral small-vessel disease, especially in apolipoprotein E ε4 carriers, providing evidence for pathophysiological synergy between these 3 biological factors.
Alvermann and coauthors present a comprehensive review of the cellular alterations in cerebrospinal fluid (CSF) that distinguish multiple sclerosis (MS) from physiological conditions and other central nervous system disorders. They indicate that immunophenotyping of CSF cells in MS might become increasingly important to correlate cellular subsets with different stages of disease activity and remission.
Highlights. JAMA Neurol. 2014;71(7):815. doi:10.1001/jamaneurol.2013.4156