详情页 - 首都医科大学宣武医院知识库

当前位置：首页 > 详情页

Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations.

93| 认领 | 导出 | 链接全文 |

文献详情

资源类型：

WOS体系：

Pubmed体系：

收录情况： ◇ SCIE

作者：

机构： [1]Department of Neurology, First Medical Center, Chinese PLA General Hospital, Beijing, China [2]Department of Neurology, PLA Rocket Force CharacteristicMedical Center, Beijing, China [3]Department of NuclearMedicine, First Medical Center, Chinese PLA General Hospital, Beijing, China [4]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [5]School of Biological Science and Medical Engineering, Beihang University, Beijing, China [6]Department of Neurology, Eighth Medical Center, Chinese PLA General Hospital, Beijing, China

出处：

DOI：

ISSN：

关键词： Chinese frontotemporal dementia semantic variant primary progressive aphasia sporadic amyotrophic lateral sclerosis TARDBP

摘要：

To investigate the genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis (SALS) patients with TARDBP mutations, we carried out a genetic analysis in a cohort of 391 SALS patients and explored the clinical manifestations of patients with TARDBP variants.The coding region of all five coding exons of TARDBP, exons 2-6, were sequenced for mutations in 391 Chinese SALS patients. The clinical features of patients with TARDBP mutations were described and compared with cases in literatures.Two missense mutations in TARDBP gene, c.1132A > G (p.N378D) and c.1147A > G (p.I383V), were detected in three cases, showing a low frequency (0.77%, 3/391) of TARDBP missense mutations in Chinese SALS patients. Based on a retrospective analysis of literatures, p.N378D mutation mainly presents a phenotype of early onset, whereas p.I383V mutation presents pure ALS or ALS alongside semantic variant primary progressive aphasia (svPPA), a type of frontotemporal dementia (FTD).Our results demonstrate that TARDBP mutation is a rare cause of Chinese SALS patients and expand the spectrum of phenotype. It is implied that genetic analysis of SALS patients plays a crucial role in uncovering the cause of disease, especially for cases developing early onset or alongside FTD.© 2021 The Authors. Brain and Behavior published by Wiley Periodicals LLC.

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2020]版：

大类 | 4 区医学

小类 | 4 区行为科学 4 区神经科学

最新[2023]版：

大类 | 3 区心理学

小类 | 4 区行为科学 4 区神经科学

JCR分区：

出版当年[2019]版：

Q3 BEHAVIORAL SCIENCES Q4 NEUROSCIENCES

最新[2023]版：

Q2 BEHAVIORAL SCIENCES Q3 NEUROSCIENCES

影响因子： 2.6 最新[2023版] 3.1 最新五年平均 2.091 出版当年[2019版] 2.381 出版当年五年平均 2.072 出版前一年[2018版] 2.708 出版后一年[2020版]

第一作者：

第一作者机构： [1]Department of Neurology, First Medical Center, Chinese PLA General Hospital, Beijing, China [2]Department of Neurology, PLA Rocket Force CharacteristicMedical Center, Beijing, China

共同第一作者：

通讯作者：

通讯机构： [1]Department of Neurology, First Medical Center, Chinese PLA General Hospital, Beijing, China [*1]Department ofNeurology, First Medical Center, ChinesePLAGeneral Hospital, Beijing, China.

推荐引用方式(GB/T 7714)：

APA：

MLA：

Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations.

文献详情

相关文献