Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.

ABSTRACT:

Background

The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of TREM2 has been reported only in patients with Alzheimer's disease. Here, we report three patients with frontotemporal dementia (FTD) from three unrelated families with heterozygous p.H157Y variant of TREM2: two patients from Colombian families (study 1) and a third Mexican origin case from the USA (study 2).

Methods

To determine if the p.H157Y variant might be associated with a specific FTD presentation, we compared in each study the cases with age-matched, sex-matched and education-matched groups-a healthy control group (HC) and a group with FTD with neither TREM2 mutations nor f

SUBMITTER: Ogonowski N 

PROVIDER: S-EPMC10447405 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature