Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

ABSTRACT:

Introduction

Early-onset Alzheimer's disease (AD) accounts for than less 1% of all AD cases, with large variation in the reported genetic contributions of known dementia genes. Mutations in the amyloid precursor protein (APP) gene were the first to be recognized as the cause of AD.

Methods

Here, a male patient with probable early-onset AD at the age of 55 years from Thailand was investigated by next-generation sequencing.

Results

A novel mutation in exon 14 of APP (c.1810C>T, p.V604M) was found. He initially illustrated the clinical manifestations of progressive nonfluent aphasia in 2011. However, he was finally diagnosed with AD presenting logopenic aphasia in 2013. The follow-up magnetic resonance imaging scan showed progression of hippocampal trophy c

SUBMITTER: Van Giau V 

PROVIDER: S-EPMC6231518 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature