Progress in genetic research on essential tremor.
10.3760/cma.j.issn.1003-9406.2017.05.032
- VernacularTitle:原发性震颤的遗传学研究进展
- Author:
Yuwen ZHAO
1
;
Qiying SUN
;
Kai LI
;
Jifeng GUO
;
Beisha TANG
;
Xinxiang YAN
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China. xxyan1268@126.com.
- Publication Type:Journal Article
- MeSH:
Essential Tremor;
etiology;
genetics;
Genetic Predisposition to Disease;
Genetic Research;
High-Temperature Requirement A Serine Peptidase 2;
genetics;
Humans;
Membrane Proteins;
genetics;
Nerve Tissue Proteins;
genetics;
RNA-Binding Protein FUS;
genetics
- From:
Chinese Journal of Medical Genetics
2017;34(5):767-771
- CountryChina
- Language:Chinese
-
Abstract:
Essential tremor (ET) is one of the most common movement disorders. Its clinical manifestations not only include typical kinetic and/or postural tremors, but also other non-motor symptoms such as cognitive dysfunction, sleep disturbance, and dysosmia. The exact etiology and pathogenesis of ET is still unknown. Approximately 60% of ET patients have a family history, and genetic factor plays an important role in the onset of the disease. Researchers have so far identified 3 genetic loci (ETM 1-3) through family studies, and proposed additional causative genes such as FUS, HTRA2, TENM4, NOS3 and susceptibility genes such as LINGO, SLC1A2, and GABA. This review focuses on the progress made in genetic research on ET.
