Bettencourt et al address the possible relationships among known spinocerebellar ataxia genes, predict their functions, identify overlapping pathways, and provide a framework for candidate gene discovery using whole-transcriptome expression data. They analyzed 788 brain samples obtained from 101 healthy individuals. See the editorial by Pulst and Pflieger.
Llufriu and colleagues evaluated the potential of magnetic resonance spectroscopy (MRS) markers of central nervous system injury to predict brain-volume loss and clinical disability in multiple sclerosis. Miller provided a related Article .
Using an international repository of clinical trials data, Ovbiagele and coauthors assess the relationship between SPAN-100 index (Stroke Prognostication using Age and the NIH Stroke Scale index, created by combining age in years plus National Institutes of Health Stroke Scale score of 100 or higher) status and outcome following treatment with intravenous thrombolysis for acute ischemic stroke.
Kester and colleagues determine associations between small-vessel disease and Alzheimer disease pathology.
Michos et al examine the relationship of 25-hydroxyvitamin D levels with cerebrovascular abnormalities as assessed on brain magnetic resonance imaging (MRI) among participants of the Atherosclerosis Risk in Communities Brain MRI study.
Tosto and colleagues examined the degree to which white matter hyperintensities (WMHs) predict aggressive cognitive decline among individuals with mild cognitive impairment (MCI), either independently or by modifying the effects of entorhinal cortex volume, a marker of Alzheimer disease–related neurodegeneration.
Ringman et al determine pathological correlates and clinical factors identifiable during life that predict the presence of severe cerebral amyloid angiopathy (CAA) in persons with pathologically confirmed Alzheimer disease.
Perez-Lloret et al determine the prevalence of freezing of gait in patients with Parkinson disease (PD). They assess its relationship with quality of life and explore factors between the off and on states in patients with motor fluctuations.
Haghikia and colleagues provided a case series of 12 women with 13 pregnancies and highly active multiple sclerosis who were treated with natalizumab during their third trimester of pregnancy and they assessed the clinical and laboratory effects on the newborns.
Irani and colleagues report on the effects of rituximab therapy in 5 patients with leucine-rich, glioma-inactivated 1 (LGI1) antibody–associated encephalopathy.
Lossos and colleagues explore the potential therapeutic benefit of betaine supplementation in siblings with severe methylenetetrahydrofolate reductase deficiency manifesting a complicated form of adult-onset hereditary spastic paraparesis.
Alvermann et al present a comprehensive review of cellular alterations in cerebrospinal fluid (CSF) that distinguish multiple sclerosis (MS) from physiological conditions and other central nervous system (CNS) disorders; integrate relevant findings into a model of leukocyte trafficking in the CNS; and evaluate the potential of CSF immunophenotyping in search of novel biomarkers in MS.