A family case of C9orf72 gene mutation-related frontotemporal dementia
10.3760/cma.j.cn113661-20231129-00233
- VernacularTitle:C9orf72基因突变额颞叶痴呆1家系
- Author:
Huarong ZHOU
1
;
Danyan XU
1
;
Yaxiu FANG
1
;
Cong OUYANG
1
;
Shuwei ZHANG
1
;
Yuping NING
1
Author Information
1. 广州医科大学附属脑科医院老年神经科学中心 广东省神经科学疾病研究重点实验室 神经致病基因与离子通道病省部共建重点实验室，广州 510370
- Publication Type:Journal Article
- Keywords:
Dementia;
Genetics;
Familial dementia;
C9orf72 gene;
Dynamic mutation
- From:
Chinese Journal of Psychiatry
2024;57(10):678-681
- CountryChina
- Language:Chinese
-
Abstract:
Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by progressive mental and behavioral abnormalities, executive dysfunction, and language impairment. The initial symptoms of FTD are complex and diverse, which can be easily misdiagnosed, and there is an apparent genetic predisposition. Repeated expansion of chromosome 9 open reading frame 72( C9orf72) is a common genetic cause of FTD, but it is rarely reported. In this paper, we report a case of an elderly man with progressive memory loss, initially diagnosed as Alzheimer′s disease. The patient had a definite family history, but whole exome sequencing testing refinement revealed no apparent pathogenic mutation. The patient′s sister exhibited personality changes and language dysfunction, suggesting the possibility of frontotemporal dementia. The patient and her sister were tested for dynamic mutations in the C9orf72, and the results showed that the patient and her sister had an abnormal number of repeats in intron 1, GGGGCC, of the C9orf72. Both were ultimately diagnosed with frontotemporal dementia with C9orf72 mutation. Based on the report of this family, continued refinement of C9orf72 repeat expansion testing is recommended for familial dementia patients if whole exome sequencing is negative.
