Exploring the TARDBP I383V Variant of Frontotemporal Dementia

Our research team, part of the ALLFTD consortium, is excited to share recent findings on a relatively unknown genetic variant, TARDBP I383V. This gene selectively impacts the temporal lobes causing semantic dementia, in which people lose meaning of words, faces, and more.  Semantic dementia has rarely been considered to have a genetic component, though this research adds to growing recognition that genetics can be involved. 

Our research provides a detailed longitudinal description of cases of TARDBP I383V, demonstrating slow but steady decline in semantic functions.  This can appear as difficulties in recognizing familiar people, rigid behavior patterns, and a loss of empathy. Our study highlights the need for further longitudinal analyses in larger samples to fully understand the implications of this genetic variant.

This research contributes to the growing body of knowledge on the genetic underpinnings of frontotemporal dementia. By exploring the specific effects of the TARDBP I383V variant, we aim to pave the way for better diagnostic and therapeutic approaches for FTD patients. Future studies will focus on understanding the mechanisms behind the selective vulnerability of the temporal lobes and comparing rates of progression among different genetic carriers.

Thanks to all the participants and staff of the University of Colorado Alzheimer and Cognition Center and the ALLFTD consortium for their invaluable contributions to this research, as well as the NIH for helping fund this work!

Written with assistance from ChatGPT-4.