Gene mutations in a Han Chinese Alzheimer's disease cohort.

ABSTRACT:

Objective

Alzheimer's disease (AD) is the most common form of dementia characterized by memory loss at disease onset. The gene mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the frequent causes of AD. However, the clinical and genetic features of AD overlap with other neurodegenerative diseases. The present study aimed to identify the clinical and genetic characteristics in a Han Chinese AD cohort.

Methods

Detailed clinical assessment was applied to all the patients. We screened amyloid precursor protein (APP), PSEN1, PSEN2, and microtubule-associated protein tau (MAPT) genes were assessed in 83 sporadic AD patients by Sanger sequencing. A total of 25 probands from families with AD were subjected to next-generation sequen

SUBMITTER: Ma L 

PROVIDER: S-EPMC6346667 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature