First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts—case report and brief review

被引：0
|
作者：
Weili Liu
Jie Zhang
Jian Li
Shuai Jia
Yanqiang Wang
Jianhong Geng
Yaozhen Wang
机构：
[1] Weifang Medical University,Department of Neurology II, Affiliated Hospital of Weifang Medical University, School of Clinical Medicine
[2] Weifang Medical University,Department of Respiratory and Critical Care Medicine, Affiliated Hospital of Weifang Medical University, School of Clinical Medicine
来源：
BMC Neurology | / 24卷
关键词：
CADASIL; Acute bilateral subcortical infarcts; NOTCH3 gene; Novel mutation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 14 条
  • [1] First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts-case report and brief review
    Liu, Weili
    Zhang, Jie
    Li, Jian
    Jia, Shuai
    Wang, Yanqiang
    Geng, Jianhong
    Wang, Yaozhen
    BMC NEUROLOGY, 2024, 24 (01)
  • [2] A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
    Fan Weiming
    Wang Yuliang
    Li Youjie
    Liu Xinsheng
    Xie Shuyang
    Liu Zhaoxia
    JOURNAL OF CLINICAL NEUROSCIENCE, 2013, 20 (02) : 316 - 317
  • [3] Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy with a Novel NOTCH3 Cys323Trp Mutation Presenting Border-Zone Infarcts: A Case Report and Literature Review
    Tojima, Maya
    Saito, Satoshi
    Yamamoto, Yumi
    Mizuno, Toshiki
    Ihara, Masafumi
    Fukuda, Hidetoshi
    JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 2016, 25 (08) : E128 - E130
  • [4] R558C NOTCH3 Mutation in a CADASIL Patient with Intracerebral Hemorrhage: A Case Report with Literature Review
    Hu, Liuting
    Liu, Gang
    Fan, Yuhua
    JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 2022, 31 (07)
  • [5] A Chinese CADASIL family with a rare heterozygous mutation in exon 2 of NOTCH3: A case report
    Guo, Jingrong
    Liu, Lulu
    Yan, Minli
    MEDICINE, 2024, 103 (41) : e40107
  • [6] First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family
    Valenti, Raffaella
    Bianchi, Silvia
    Pescini, Francesca
    D'Eramo, Camilla
    Inzitari, Domenico
    Dotti, Maria Teresa
    Pantoni, Leonardo
    JOURNAL OF NEUROLOGY, 2011, 258 (09) : 1632 - 1636
  • [7] First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family
    Raffaella Valenti
    Silvia Bianchi
    Francesca Pescini
    Camilla D’Eramo
    Domenico Inzitari
    Maria Teresa Dotti
    Leonardo Pantoni
    Journal of Neurology, 2011, 258 : 1632 - 1636
  • [8] A novel NOTCH3 mutation and its clinical, neuroimaging and pathological presentation in a Chinese patient with CADASIL A case report
    Dang, Jing
    Lei, Shengsuo
    Xia, Mingwan
    Chen, Jihua
    MEDICINE, 2022, 101 (07) : E28870
  • [9] Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report
    Ruojie He
    Huan Li
    Yiming Sun
    Menglong Chen
    Liang Wang
    Yuling Zhu
    Cheng Zhang
    BMC Neurology, 20
  • [10] Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report
    He, Ruojie
    Li, Huan
    Sun, Yiming
    Chen, Menglong
    Wang, Liang
    Zhu, Yuling
    Zhang, Cheng
    BMC NEUROLOGY, 2020, 20 (01)
12