Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.

ABSTRACT:

Background

Mutations in the presenilin-1 (PSEN1), presenilin-2 (PSEN2), and amyloid precursor protein (APP) genes have been commonly identified in early-onset Alzheimer's disease (EOAD). Some of the mutations in the three causative genes, especially the PSEN1 gene, result in variable phenotypes and exhibit clinical heterogeneity among EOAD families.

Methods

Using next-generation sequencing (NGS), we performed genetic screening in a Chinese cohort of 18 patients with EOAD, consisting of five familial EOAD and 13 sporadic cases.

Results

We identified two likely pathogenic PSEN1 mutations (one novel) and a novel APP mutation in three cases of EOAD, where two are familial and one is sporadic, respectively. In addition, we detected

SUBMITTER: Liang Z 

PROVIDER: S-EPMC10084792 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature