Mutations in KMT2B are associated with an early-onset & often complex dystonia. In this study, Dr. Brent Fogel & other researchers describe a cohort of 53 patients with KMT2B mutations, with detailed delineation of their clinical phenotype & molecular genetic features.
Determination of therapeutic benefit in brain tumors is dependent on serial assessment of radiographic images. Dr. Timothy Cloughesy and others composed a review article for neuro-oncologists to outline essential steps for performing radiographic assessments.
Acute stroke trials are migrating to the prehospital setting. Drs. Sidney Starkman, Latisha Sharma, David Liebeskind, Lucas Restrepo, & Miguel Valdes-Sueiras delineate the impact upon enrollment in post-arrival trials of earlier recruitment in a prehospital trial.
What are the outcomes of prolonged mechanical ventilation following endovascular treatment of ischemic stroke? Dr. David Liebeskind & other researchers studied a sample of hospitalizations, finding that nearly one-in-six patients had prolonged mechanical ventilation after EVT.
More than half of patients with acute ischemic stroke have minor neurological deficits. This research group with Drs. May Nour, David Liebeskind & Jeffrey Saver studied the frequency & outcomes of reperfusion therapy in US practice.
ScienMag featured a new UCLA study identifying a compound that can reproduce the effect of exercise in muscle cells in mice. Led by Dr. Melissa Spencer, this research could be a step toward a treatment for limb girdle muscular dystrophy.
Friedreich's ataxia (FRDA) is a progressive genetic neurodegenerative disorder with no approved treatment. Here, Dr. Susan Perlman found that omaveloxolone significantly improved neurological function, representing a potential therapeutic agent in FRDA.
Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by the widespread aberrant accumulation of a-synuclein. In this study, Drs. Katherine Narr and Shantanu Joshi take a global perspective on whole brain white matter in MSA.
Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by the widespread aberrant accumulation of a-synuclein. In this study, Drs. Katherine Narr and Shantanu Joshi take a global perspective on whole brain white matter in MSA.
