Early
10.11817/j.issn.1672-7347.2021.190616
- Author:
Chenping LI
1
;
Xuewen XIAO
2
;
Junling WANG
2
;
Lu SHEN
2
;
Bin JIAO
3
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China. 1243521176@qq.com.
2. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
3. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China. jbin0911@163.com.
- Publication Type:Journal Article
- Keywords:
Alzheimer’s disease;
early-onset;
family;
gene mutation
- MeSH:
Activities of Daily Living;
Alzheimer Disease/genetics*;
Humans;
Mutation;
Neurodegenerative Diseases;
Presenilin-1/genetics*;
Presenilin-2/genetics*
- From:
Journal of Central South University(Medical Sciences)
2021;46(2):189-194
- CountryChina
- Language:English
-
Abstract:
Alzheimer's disease (AD) is the most common senile neurodegenerative disease characterized by progressive cognitive dysfunction, psychological and behavioral abnormalities, and impaired ability of activities of daily living. A family with a total of 3 patients were admitted to the Department of Neurology of Xiangya Hospital, Central South University in 2018. The proband showed memory decline as the presenting symptoms, and subsequently showed psychological and behavioral abnormalities, personality changes, seizures, and motor retardation. Definite diagnosis of early-onset familial AD (EOFAD) with missense mutation of presenilin 2 (PSEN2) (c.715A>G p.M239V) was established by whole exome sequencing (WES) technology. We reported the mutation in Chinese Han population for the first time, which expanded the mutation spectrum ofPSEN2 gene and aid to enrich the characterization of clinical phenotype in EOFAD associated to PSEN2 mutations. Patients with early onset age and complex clinical manifestations of AD can be diagnosed with the help of genetic testing to avoid misdiagnosis.
