Webinar Review: Genetic Forms of Dementia in a Unique Clinical Setting — The Story of Colombia

Over the course of the semester, our trainees are reviewing webinars in their given fields and preparing abstracts to help colleagues outside their discipline make an informed choice about watching them. As our program bridges diverse disciplines, these abstracts are beneficial for our own group in helping one another gain key knowledge in each other’s fields. We are happy to share these here for anyone else who may find them helpful.

Genetic Forms of Dementia in a Unique Clinical Setting — The Story of Colombia

Dr. Kenneth Kosik, Harriman Professor of Neuroscience at the UCSB

April 06, 2022

Society for Neuroscience, Neuronline

Watch on the SfN Website >>

Jennifer WaltersAnalysis by Jennifer Walters: 

Dr. Kenneth Kosik’s lab at the University of California at Santa Barbara focuses on neural plasticity, the evolution of synapses, and disease-related impairments of plasticity (e.g. the occurrence of Alzheimer’s disease). This webinar delves into their study conducted in Latin America, specifically Colombia, observing the largest kind of familial Alzheimer’s disease (AD) in the world involving patients who inherit the PS1 E280A mutation. This particular form of familial AD has been traced back through family trees to occur in approximately 6,000 individuals through the prominence of 6 homozygotes.

Ultimately, this form of AD results in its quintessential, textbook form of the disease – ending in senile beta-amyloid plaques and neurofibrillary tau tangles that develop throughout the brain. The course of the disease begins early, around the individual’s 30s, symptomology remains asymptomatic until about the late 30s-early 40s. The affected individual’s symptoms go on to progress until their 50s, during which early onset dementia sets in. Finally, the dementia spans an average of a 10-year period until the end of life.

In Kosik’s study, patients predisposed to this disease who inherit the mutation were encouraged to participate in the community research that is the basis for a new drug trial aimed at preventing the onset of dementia symptoms. He discusses that throughout community outreach in Colombia, they were able to recognize and further characterize numerous novel mutations and sequence additional cases of early-onset dementia. Kosik also discussed the challenges and significance of performing this research on the southern continent, such as the impacts of globalism and current events in the world (i.e. peri- and post-pandemic), as well as the historical context the region provides.

The information relayed in this webinar would be of interest not only to neuroscientists, but to anyone who has heard of AD/dementia, or who personally know an individual who has suffered from this disorder.