Cognition, social behavior, and decision-making are common challenges among individuals with PWS. The brain region that controls many of these functions is called the frontal lobe. To date, there has been little work on understanding differences in this part of the brain between people with and without PWS.
Patrick Hof, M.D., is an expert in neuroanatomy (the study of brain structure) at the Icahn School of Medicine at Mount Sinai, NY. He is examining the structure and distribution of a specific type of neuron in the frontal lobe of PWS versus non-PWS brains in a project titled "A Post-mortem Study of von Economo Neurons In the Frontal Cortex Of Brains Of Persons With PWS," one of the PWS studies funded by FPWR in 2016.These von Economo neurons (VENs) are critical for sensory awareness, social interaction, and problem solving. They're known to be disrupted in other disorders such as autism, but have not yet been studied in PWS. Because these particular neurons are only present in higher mammals, they can't be studied in mouse models of PWS. This project is only possible through the incredible generosity of families who have lost a loved one with PWS made a donation available for study through the NIH NeuroBioBank.
In the first year of the project, Dr. Hof's team has found some preliminary data that suggests there are differences in VENs between individuals with and without PWS. Specifically their location, their shape, and their density differs between the two groups. In year 2, they'll study an additional 19 samples from older individuals with PWS. Clinical information is also available for these patients, including mental health status.
The goal is to determine if there's a correlation or link between the anatomy and function of the VENs, and mental health in PWS, including depression, bipoloar disorder, psychosis, and dementia. The results from this work will enhance our understanding of the cause of the PWS phenotype and help direct the development of psychological and neurophysiological interventions for those with PWS in the future.