Behavioural Variant Frontotemporal Dementia due to CCNF Gene Mutation: A Case Report

失智症 额颞叶变性 医学 痴呆 萎缩 神经病理学 C9orf72 肌萎缩侧索硬化 心理学 疾病 精神科 儿科 内科学
作者
Feng-Ling You,G. M. Xia,Jing Cai
出处
期刊:Current Alzheimer Research [Bentham Science Publishers]
卷期号:20 (5): 371-378
标识
DOI:10.2174/1567205020666230811092906
摘要

Background: Frontal, temporal lobe dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal neurodegenerative diseases. Studies have found that CCNF mutations have been found in patients with familial and sporadic ALS and FTD. Behavioural variant frontotemporal dementia (bvFTD) is a clinical syndrome characterized by progressive deterioration of personality, social behaviour, and cognitive function, which is most closely related to genetic factors. As the early symptoms of bvFTD are highly heterogeneous, the condition is often misdiagnosed as Alzheimer's disease or psychiatric disorders. In this study, a bvFTD patient had a CCNF gene mutation, which led to ubiquitinated protein accumulation and ultimately caused neurodegenerative disease. Genetic detection should be improved urgently for bvFTD patients and family members to provide a clinical reference for early diagnosis of frontotemporal dementia. Case Presentation: In this case, the patient was 65 years old with an insidious onset, early-onset memory loss, a significant decline in the episodic memory, an early AD diagnosis, and oral treatment with donepezil hydrochloride for 3 years with poor efficacy, followed by a change to oral memantine hydrochloride tablets, which controlled the condition for several months. His medication was switched to sodium oligomannate capsules, and his condition was gradually controlled, but no significant improvement was observed. After spontaneous drug withdrawal, the patient’s condition progressed rapidly; therefore, he visited our hospital and underwent neuropsychological tests for moderate to severe cognitive impairment. AD cerebrospinal fluid markers showed no significant abnormalities, and cranial MRI revealed frontotemporal lobe atrophy and decreased hippocampal volume. Genetic testing for the presence of the CCNF gene revealed a c.1532C > A (p. T511N) heterozygous variant, which might be a diagnostic criterion for bvFTD. Therefore, the patient's symptoms recurred after transient improvement with the combination of donepezil, oral memantine hydrochloride tablets, and sodium oligomannate, but his overall condition was improved compared to that before, and this treatment regimen was continued to observe changes during the follow-up. Conclusion: The early clinical manifestations of bvFTD are complex and variable, and the condition is easily misdiagnosed, thus delaying treatment. Therefore, for patients with a high clinical suspicion of FTD, in addition to a detailed understanding of their medical history and family history and improvement of relevant examinations, genetic testing should be performed as early as possible to help confirm the diagnosis. For diseases closely related to genes, genetic testing of other family members should be optimised as much as possible to allow early diagnosis and intervention and guide fertility in the next generation.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
tzy发布了新的文献求助10
1秒前
星期八发布了新的文献求助10
2秒前
小小红帽发布了新的文献求助10
2秒前
傲娇以晴完成签到 ,获得积分10
3秒前
JamesPei应助xinxin采纳,获得10
3秒前
3秒前
风趣的老太应助bofu采纳,获得10
4秒前
脑洞疼应助魏家乐采纳,获得10
5秒前
天气好好发布了新的文献求助10
5秒前
yep发布了新的文献求助10
6秒前
lanmo完成签到,获得积分10
6秒前
6秒前
7秒前
CipherSage应助拾新采纳,获得10
8秒前
9秒前
wyy完成签到,获得积分10
10秒前
田様应助武雨寒采纳,获得10
10秒前
阿桂完成签到,获得积分10
10秒前
陈可可发布了新的文献求助10
10秒前
ljq发布了新的文献求助80
13秒前
就爱吃土豆完成签到,获得积分0
13秒前
香蕉觅云应助小小橙采纳,获得10
14秒前
量子星尘发布了新的文献求助10
15秒前
TangWL完成签到 ,获得积分10
18秒前
18秒前
久9完成签到 ,获得积分10
19秒前
19秒前
huangyulin66应助羊羊杨采纳,获得10
19秒前
烟花应助澡雪采纳,获得10
20秒前
栀雨味完成签到,获得积分10
21秒前
111完成签到,获得积分20
21秒前
21秒前
21秒前
在写了完成签到,获得积分10
23秒前
24秒前
栀雨味发布了新的文献求助10
24秒前
111发布了新的文献求助10
24秒前
24秒前
25秒前
redking发布了新的文献求助10
26秒前
高分求助中
A new approach to the extrapolation of accelerated life test data 1000
Picture Books with Same-sex Parented Families: Unintentional Censorship 700
ACSM’s Guidelines for Exercise Testing and Prescription, 12th edition 500
Nucleophilic substitution in azasydnone-modified dinitroanisoles 500
不知道标题是什么 500
Indomethacinのヒトにおける経皮吸収 400
Phylogenetic study of the order Polydesmida (Myriapoda: Diplopoda) 370
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 3975814
求助须知:如何正确求助?哪些是违规求助? 3520123
关于积分的说明 11201020
捐赠科研通 3256502
什么是DOI,文献DOI怎么找? 1798347
邀请新用户注册赠送积分活动 877523
科研通“疑难数据库(出版商)”最低求助积分说明 806417