Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

ABSTRACT:

Introduction

The Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) consortia are two closely connected studies, involving multiple North American centers that evaluate both sporadic and familial frontotemporal dementia (FTD) participants and study longitudinal changes.

Methods

We screened the major dementia-associated genes in 302 sporadic and 390 familial (symptomatic or at-risk) participants enrolled in these studies.

Results

Among the sporadic patients, 16 (5.3%) carried chromosome 9 open reading frame 72 (C9orf72), microtubule-associated protein tau (MAPT), and progranulin (GRN) pathogenic variants, whereas in the familial series we identified 207 carrie

SUBMITTER: Ramos EM 

PROVIDER: S-EPMC7199807 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature