Amyotrophic lateral sclerosis (ALS) has historically posed unique challenges for gene-therapy-based
approaches, due to a paucity of therapeutic targets as well as the difficulty of …

Leber’s congenital amaurosis (LCA) is a group of severe inherited retinal degenerations that
are symptomatic in infancy and lead to total blindness in adulthood. Recent clinical trials …

Adeno-associated virus-mediated gene replacement is emerging as a safe and effective
means of correcting single-gene mutations affecting the CNS. AAV-mediated progranulin gene (…

The neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal
lobar degeneration with TAR DNA-binding protein-43 (TDP-43) inclusions (FTLD-TDP) share …

Alternative splicing of neuronal genes is controlled partly by the coordinated action of
polypyrimidine tract binding proteins (PTBPs). While PTBP1 is ubiquitously expressed, PTBP2 is …

Background Parkinson’s disease (PD) is a progressive neurodegenerative disease affecting
about 5 million people worldwide with no disease-modifying therapies. We sought blood-…

Objective Plasma phosphorylated tau (p‐tau 181 ) is reliably elevated in Alzheimer's disease
(AD), but less explored is its specificity relative to other neurodegenerative conditions. Here…

Background SLOB binds to and modulates the activity of the Drosophila Slowpoke (dSlo)
calcium activated potassium channel. Recent microarray analyses demonstrated circadian …

purpose. Cell death can be induced by exogenous reactive oxygen species (ROS). Endogenous
ROS can also play a role in cell death triggered by agents that are not themselves ROS. …

The role of genetic testing in neurologic clinical practice has increased dramatically in
recent years, driven by research on genetic causes of neurologic disease and increased …