Using conditional logistic regression models and survival analysis, Jun et al and the Alzheimer’s Disease Genetics Consortium evaluate the association of risk and age at onset of Alzheimer disease with single-nucleotide polymorphisms in the chromosome 19 region including APOE and a repeat-length polymorphism in TOMM40 (poly-T, rs10524523). In the related editorial, Hardy discusses the association of TOMM40 with Alzheimer disease.
To assess the effects of FTY720 on Schwann cells (SCs) and peripheral nerve myelination, Köhne and colleagues studied receptor expression studies and myelination in primary rat SCs and rat neuronal/SC cocultures. Cells were treated with physiologically relevant concentrations of the active phosphorylated form of FTY720 (FTY720P).
In an open-label, nonrandomized phase 2 study with 2 arms comparing levetiracetam treatment vs observation, Klein and coauthors evaluate the safety and tolerability of treatment with levetiracetam and determine the trough levels of levetiracetam in patients with traumatic brain injury who are at high risk for posttraumatic epilepsy.
Evidence suggests that the quality for care of stroke patients declines on weekends. Palmer and coauthors studied the degree to which the quality and safety of stroke care are affected by whether a patient is admitted on a weekend.
Feng and coauthors examine whether statins affect type 1 interferon responses in relapsing-remitting multiple sclerosis.
To investigate whether a blood-based test could be used as a screen for Alzheimer disease (AD), Soares and colleagues applied a multiplex immunoassay panel to identify plasma biomarkers of AD using plasma samples from the Alzheimer’s Disease Neuroimaging Initiative cohort. They examined differences across mild cognitive impairment, AD, and healthy control groups and relative to the ApoE genotype.
Doecke and coauthors studied baseline plasma screening results for 754 healthy individuals and 207 participants with Alzheimer disease (AD) from the Australian Imaging Biomarker and Lifestyle study cohort to identify plasma biomarkers for the diagnosis of AD.
Kotzbauer and coauthors examine the relative contributions of individual molecular mechanisms that occur in dementia associated with Parkinson disease.
Shortening of telomere length is a consequence of aging. Honig and coauthors examined the possible relation of telomere length with development of dementia and mortality.
Little is known about associations between the clinical status of vascular parkinsonism (VP) and white matter (WM) microstructural properties derived from imaging data for specific fiber bundles. Wang et al investigated WM microstructure in VP using diffusion tensor imaging.
Wagner et al discuss .-secretase inhibition and .-secretase modulation as approaches to disease-modifying therapeutics capable of substantially altering the clinical course of Alzheimer disease and emphasize their significant differences. They also discuss genetic- and biomarker-based translational and clinical trial paradigms that may assist in developing a useful therapeutic agent.
Jordan et al describe a patient with slowly progressive ataxia, neuropathy, and oculomotor dysfunction. The authors discuss the differential diagnosis and a methodological approach to the diagnostic workup before revealing the final diagnosis.
Pyle et al determine the genetic basis of an unexplained multisystem neurological disorder affecting 2 siblings.
Suzuki and colleagues described a 21-year-old woman who was positive for anti– aquaporin 4 (AQP4) antibody and presented with hypothermia, hypotension, and hypersomnia owing to bilateral hypothalamic lesions as the only abnormal clinical finding.
In a genetic analysis, Kumar et al evaluate the frequency and clinical spectrum of the recently identified p.D620N mutation in the VPS35 gene in Parkinson disease in an international sample.
Shively et al review the epidemiologic data linking traumatic brain injury and dementia, existing clinical and pathologic data, and will identify areas where future research is needed.
In a worldwide, multicenter clinical trial, Radue et al for the FREEDOMS Study Group assess the impact of fingolimod (FTY720) therapy on magnetic resonance imaging measures of inflammatory activity and tissue damage in patients participating in a 2-year, placebo-controlled, phase 3 study.
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