John Q. Trojanowski

TL;DR: Neither PPA phenotyping nor imaging alone is a reliable predictor of pathology, but multimodal predictors, such as combining neuropsychological testing with MRI analysis, can improve noninvasive prediction of underlying pathology in nonfluent forms of PPA.

TL;DR: The newly established surrogate matrix for 2D-UPLC-MS-MS measurement of Aβ42 provides selective, reproducible, and accurate results and supports consideration as a candidate reference method.

TL;DR: Immunohistochemical studies conducted on 22 human fetal spinal cords with gestational ages that ranged from 6 to 40 weeks by using monoclonal antibodies to several classes of neuron or glial specific polypeptides addressed the problem of lack of information on the human counterparts of the relatively small subset of well‐characterized, developmental regulated neuron and glialspecific genes of the mammalian CNS.

TL;DR: It is timely to define a nosology for these diseases that is based on their genetic and molecular underpinnings, as proposed here.

TL;DR: A family with severe mental retardation characterized by the virtual absence of speech, autism spectrum disorder, epilepsy, late-onset ataxia, weakness and dystonia is studied, revealing a probable interaction between sodium/proton exchangers and cytoskeletal elements involved in vesicular transport and raising the possibility that abnormalities of vesicle targeting may play an important role in more common disorders.