Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study.

ABSTRACT:

Background

Behavioral variant frontotemporal dementia (bvFTD) has been related to different genetic factors. Identifying multimodal phenotypic heterogeneity triggered by various genetic influences is critical for improving diagnosis, prognosis, and treatments. However, the specific impact of different genetic levels (mutations vs. risk variants vs. sporadic presentations) on clinical and neurocognitive phenotypes is not entirely understood, specially in patites from underrepresented regions such as Colombia.

Methods

Here, in a multiple single cases study, we provide systematic comparisons regarding cognitive, neuropsychiatric, brain atrophy, and gene expression-atrophy overlap in a novel cohort of FTD patients (n = 42) from Colombia with different genetic levels, including p

SUBMITTER: Santamaria-Garcia H 

PROVIDER: S-EPMC9724347 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature