By Meghan McCarthy
A University of Pennsylvania-led research study suggests that a rare genetic variant called TREM2 increases one’s risk of Alzheimer’s disease (AD) but also causes atypical symptoms. This finding could have a significant impact on how AD is diagnosed.
Someone living with AD typically seeks out a diagnosis after reporting concerns about memory. But someone with the TREM2 variant is more likely to notice issues with memory later on in the disease course. Instead, they may first notice difficulties with language, vision, and mobility or changes to their personality.
“We were able to demonstrate, with the largest brain autopsy study of cases with this genetic risk variant to date, that TREM2 variants are associated with these atypical Alzheimer’s disease symptoms,” said Edward Lee, MD, PhD, co-associate director of the University of Pennsylvania’s Alzheimer’s Disease Research Center.
These findings have important implications for the way AD is diagnosed, as patients with TREM2 may be misdiagnosed with other neurodegenerative disease, said Kim Boram, MD, lead author of the study.