Neuronal Intranuclear Inclusion Disease with NOTCH2NLC GGC Repeat Expansion: A Systematic Review and Challenges of Phenotypic Characterization

疾病 医学 表型 基因型 痴呆 发病年龄 预测(人工智能) 内科学 生物 病理 遗传学 基因 人工智能 计算机科学
作者
Tian Zeng,Yiqun Chen,Honghao Huang,Shengqi Li,Jiaqi Huang,Haobo Xie,Shi Lin Lin,Siyao Chen,Guangyong Chen,Dehao Yang
出处
期刊:Aging and Disease [Buck Institute for Research on Aging]
被引量:1
标识
DOI:10.14336/ad.2024.0131-1
摘要

Neuronal intranuclear inclusion disease (NIID) is a highly clinically heterogeneous neurodegenerative disorder primarily attributed to abnormal GGC repeat expansions in the NOTCH2NLC gene. This study aims to comprehensively explore its phenotypic characteristics and genotype-phenotype correlation. A literature search was conducted in PubMed, Embase, and the Cochrane Library from September 1, 2019, to December 31, 2022, encompassing reported NIID cases confirmed by pathogenic NOTCH2NLC mutations. Linear regressions and trend analyses were performed. Analyzing 635 cases from 85 included studies revealed that familial cases exhibited significantly larger GGC repeat expansions than sporadic cases (p < 0.001), and this frequency significantly increased with expanding GGC repeats (p trend < 0.001). Age at onset (AAO) showed a negative correlation with GGC repeat expansions (p < 0.001). The predominant initial symptoms included tremor (31.70%), cognitive impairment (14.12%), and muscle weakness (10.66%). The decreased or absent tendon reflex (DTR/ATR) emerged as a notable clinical indicator of NIID due to its high prevalence. U-fiber was observed in 79.11% of patients, particularly prominent in paroxysmal disease-dominant (87.50%) and dementia-dominant cases (81.08%). Peripheral neuropathy-dominant cases exhibited larger GGC repeat expansions (median = 123.00) and an earlier AAO (median = 33.00) than other phenotypes. Moreover, a significant genetic anticipation of 3.5 years was observed (p = 0.039). This study provides a comprehensive and up-to-date compilation of genotypic and phenotypic information on NIID since the identification of the causative gene NOTCH2NLC. We contribute a novel diagnostic framework for NIID to support clinical practice.
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
自然完成签到,获得积分10
刚刚
刚刚
刚刚
bkagyin应助Hayley采纳,获得30
刚刚
北林发布了新的文献求助10
刚刚
在水一方应助Gj采纳,获得10
刚刚
徐曼完成签到,获得积分10
1秒前
跳跃寒风完成签到,获得积分20
2秒前
2秒前
史超完成签到,获得积分10
2秒前
华仔应助八戒的梦想采纳,获得10
3秒前
CipherSage应助大胆又夏采纳,获得10
4秒前
4秒前
pluto应助老朱采纳,获得10
5秒前
yy发布了新的文献求助10
5秒前
无花果应助刘壮实采纳,获得10
5秒前
5秒前
....完成签到,获得积分20
6秒前
6秒前
7秒前
7秒前
7秒前
7秒前
在水一方应助拉长的芷烟采纳,获得30
8秒前
高序发布了新的文献求助20
9秒前
星辰大海应助zjx采纳,获得10
9秒前
LJ_scholar发布了新的文献求助10
10秒前
春树发布了新的文献求助10
10秒前
11秒前
11秒前
量子星尘发布了新的文献求助10
11秒前
xanderxue发布了新的文献求助10
11秒前
Jian发布了新的文献求助10
11秒前
炙热雅琴发布了新的文献求助10
12秒前
12秒前
wjx发布了新的文献求助10
12秒前
传奇3应助大喵采纳,获得10
13秒前
李健应助风趣的寻绿采纳,获得10
14秒前
15秒前
Gj完成签到,获得积分10
15秒前
高分求助中
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
Effective Learning and Mental Wellbeing 300
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 3975165
求助须知:如何正确求助?哪些是违规求助? 3519595
关于积分的说明 11198781
捐赠科研通 3255912
什么是DOI,文献DOI怎么找? 1798001
邀请新用户注册赠送积分活动 877343
科研通“疑难数据库(出版商)”最低求助积分说明 806298