Date: Wednesday, November 30, 2016
Location: McGovern Seminar room, 46-3189
Time: 12:00 pm-1:00 pm
Speaker: Patrick R. Hof, M.D.
Affiliation: Irving and Dorothy Regenstreif Professor of Neuroscience, Fishberg Department of Neuroscience, Seaver Center for Autism Research, and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York

Host: Mriganka Sur, Ph.D., FRS

Talk title: Neuropathology of autism and the spectrum of selective neuronal alterations in neuropsychiatric diseases
Abstract: The lecture will review the concept of selective neuronal vulnerability as applied to the study of autism spectrum disorder, in postmortem brain or in animal models. Guided by evidence from functional brain imaging studies in patients with autism, we reasoned that local differences in activation of specific systems would result from alteration of key population of pyramidal neurons with highly restricted distribution. We were able to identify such changes in the fusiform face area, Broca’s area, and insular and anterior cingulate cortex in brains from patients with autism using a rigorous stereology approach, revealing that a regionally constrained and cell type-specific pathology occurs in the neocortex in these patients. We also studied cellular and synaptic pathology in a mouse model of Phelan-McDermid syndrome unraveling complex developmental abnormalities that can inform mechanisms of disease progression more generally for idiopathic autism. We further expand these analyses to a large-scale endeavor of comparative and evolutionary studies of the neuronal architecture across mammals. These studies permitted the discovery of particular cell types specific to only some mammals, which, in human, turned out to be a marker of vulnerability in certain conditions such as frontotemporal dementia and autism. This work linked brain evolutionary traits with brain diseases unique to human.