Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome.

ABSTRACT:

Background

Frontotemporal dementia (FTD) syndrome is a genetically heterogeneous group of diseases. Pathogenic variants in the chromosome 9 open reading frame 72 (C9orf72), microtubule-associated protein tau (MAPT), and progranulin (GRN) genes are mainly associated with genetic FTD in Caucasian populations.

Objective

To understand the genetic background of Korean patients with FTD syndrome.

Methods

We searched for pathogenic variants of 52 genes related to FTD, amyotrophic lateral sclerosis, familial Alzheimer's disease, and other dementias, and hexanucleotide repeats of the C9orf72 gene in 72 Korean patients with FTD using whole exome sequencing and the repeat-primed polymerase chain reaction, respectively.

Results

One likely pathog

SUBMITTER: Kim EJ 

PROVIDER: S-EPMC9661354 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature