Suppr超能文献

特发性震颤的基因组标记

Genomic Markers for Essential Tremor.

作者信息

Jiménez-Jiménez Félix Javier, Alonso-Navarro Hortensia, García-Martín Elena, Álvarez Ignacio, Pastor Pau, Agúndez José A G

机构信息

Section of Neurology, Hospital Universitario del Sureste, E28500 Arganda del Rey, Spain.

ARADyAL Instituto de Salud Carlos III, University Institute of Molecular Pathology Biomarkers, University of Extremadura, E10071 Caceres, Spain.

出版信息

Pharmaceuticals (Basel). 2021 May 27;14(6):516. doi: 10.3390/ph14060516.

Abstract

There are many reports suggesting an important role of genetic factors in the etiopathogenesis of essential tremor (ET), encouraging continuing the research for possible genetic markers. Linkage studies in families with ET have identified 4 genes/loci for familial ET, although the responsible gene(s) have not been identified. Genome-wide association studies (GWAS) described several variants in , , , , and , related with ET, but none of them have been confirmed in replication studies. In addition, the case-control association studies performed for candidate variants have not convincingly linked any gene with the risk for ET. Exome studies described the association of several genes with familial ET (, , , , , , , , , , , , , , and ), but they were found only in singular families and, again, not found in other families or other populations, suggesting that some can be private polymorphisms. The search for responsible genes for ET is still ongoing.

摘要

有许多报告表明遗传因素在特发性震颤(ET)的病因发病机制中起重要作用,这促使人们继续寻找可能的遗传标记。对ET家族的连锁研究已确定了4个家族性ET的基因/位点,尽管尚未确定致病基因。全基因组关联研究(GWAS)描述了与ET相关的几个基因中的变异,但在重复研究中均未得到证实。此外,针对候选变异进行的病例对照关联研究也未能令人信服地将任何基因与ET风险联系起来。外显子组研究描述了几个基因与家族性ET的关联(……),但仅在个别家族中发现,在其他家族或其他人群中未发现,这表明其中一些可能是私人多态性。对ET致病基因的寻找仍在继续。

相似文献

1
Genomic Markers for Essential Tremor.
Pharmaceuticals (Basel). 2021 May 27;14(6):516. doi: 10.3390/ph14060516.
2
Genetic Risk Factors for Essential Tremor: A Review.
Tremor Other Hyperkinet Mov (N Y). 2020 Jun 11;10:4. doi: 10.5334/tohm.67.
3
Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.
CNS Neurosci Ther. 2020 Aug;26(8):837-841. doi: 10.1111/cns.13305. Epub 2020 Mar 20.
4
Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.
Front Neurol. 2022 Mar 23;13:821189. doi: 10.3389/fneur.2022.821189. eCollection 2022.
5
Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.
Neurol Sci. 2023 Jun;44(6):2003-2015. doi: 10.1007/s10072-023-06603-4. Epub 2023 Jan 23.
6
Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond.
J Neurol Sci. 2024 May 15;460:123012. doi: 10.1016/j.jns.2024.123012. Epub 2024 Apr 13.
7
Update on genetics of essential tremor.
Acta Neurol Scand. 2013 Dec;128(6):359-71. doi: 10.1111/ane.12148. Epub 2013 May 18.
8
No rare deleterious variants from , , and are associated with essential tremor.
Neurol Genet. 2017 Oct 19;3(5):e195. doi: 10.1212/NXG.0000000000000195. eCollection 2017 Oct.
9
Genome-wide association study in essential tremor identifies three new loci.
Brain. 2016 Dec;139(Pt 12):3163-3169. doi: 10.1093/brain/aww242. Epub 2016 Oct 20.
10
Exome-wide rare variant analysis in familial essential tremor.
Parkinsonism Relat Disord. 2021 Jan;82:109-116. doi: 10.1016/j.parkreldis.2020.11.021. Epub 2020 Nov 24.

引用本文的文献

3
Association Between Common Variants in the / Genes and Risk for Essential Tremor.
Int J Mol Sci. 2024 Dec 13;25(24):13403. doi: 10.3390/ijms252413403.
7
Exploring the diagnostic markers of essential tremor: A study based on machine learning algorithms.
Open Life Sci. 2023 Jun 22;18(1):20220622. doi: 10.1515/biol-2022-0622. eCollection 2023.
8
Defective cerebellar ryanodine receptor type 1 and endoplasmic reticulum calcium 'leak' in tremor pathophysiology.
Acta Neuropathol. 2023 Aug;146(2):301-318. doi: 10.1007/s00401-023-02602-z. Epub 2023 Jun 19.
9
Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.
Neurol Sci. 2023 Jun;44(6):2003-2015. doi: 10.1007/s10072-023-06603-4. Epub 2023 Jan 23.
10
Propranolol Modulates Cerebellar Circuit Activity and Reduces Tremor.
Cells. 2022 Dec 1;11(23):3889. doi: 10.3390/cells11233889.

本文引用的文献

1
Sleep Disorders in Patients with Essential Tremor.
Curr Neurol Neurosci Rep. 2021 Mar 22;21(5):23. doi: 10.1007/s11910-021-01109-y.
2
Exome-wide rare variant analysis in familial essential tremor.
Parkinsonism Relat Disord. 2021 Jan;82:109-116. doi: 10.1016/j.parkreldis.2020.11.021. Epub 2020 Nov 24.
3
4
Assessment of the association between NUS1 variants and essential tremor.
Neurosci Lett. 2021 Jan 1;740:135441. doi: 10.1016/j.neulet.2020.135441. Epub 2020 Oct 24.
5
Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.
Brain. 2020 Dec 5;143(11):e89. doi: 10.1093/brain/awaa291.
7
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Mov Disord. 2021 Jan;36(1):251-255. doi: 10.1002/mds.28302. Epub 2020 Oct 7.
8
Transcriptomic Changes Resulting From Overexpression Identify Pathways Potentially Relevant to Essential Tremor.
Front Genet. 2020 Jul 31;11:813. doi: 10.3389/fgene.2020.00813. eCollection 2020.
9
Genetic Risk Factors for Essential Tremor: A Review.
Tremor Other Hyperkinet Mov (N Y). 2020 Jun 11;10:4. doi: 10.5334/tohm.67.
10
GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.
Brain. 2020 Jul 1;143(7):e57. doi: 10.1093/brain/awaa144.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验