Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism.

Objective: To identify novel genetic mechanisms causing Charcot-Marie-Tooth (CMT) disease.

Methods: We performed a next-generation sequencing study of 34 genes associated with CMT in a patient with peripheral neuropathy.

Results: We found a non-previously described mutation in EGR2 (p.

Diagnostic Validity Comparison Between Criteria Based on CSF Alzheimer's Disease Biomarkers.

Aim: To compare the diagnostic validity of NIA-AA criteria, for AD CSF biomarkers, with our own new criteria.

Materials And Methods: Between 2008 and 2011, 170 patients with Mild Cognitive Impairment (MCI) were included. CSF levels of Aβ1-42, T-tau, P-tau181, and ratios of T-tau/Aβ1-42 and P-tau181/Aβ1-42 were analyzed.

Comparison of two analytical platforms for CSF biomarkers of Alzheimer's disease.

Cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are currently being assessed with two different assays. Our objective was to study if there is a correlation between values obtained by both techniques, to compare their validity and search for conversion factor between values obtained for every protein. We compared the performances of two commonly used platforms, an enzyme-linked immunosorbent assay (ELISA) and a multiplex (xMAP) technology for measurement of CSF Aβ 1-42, total tau (T-tau), and phosphorylated tau 181 (P-tau 181p) proteins, in 30 AD patients and 28 control subjects.