Genetic Markers of Essential Tremor in Restless Legs Syndrome/Willis-Ekbom Disease in Southern Chinese Population
- VernacularTitle:不宁腿综合征/Willis-Ekbom病的原发性震颤易感基因的相关性研究
- Author:
Xiaomei LAI
1
;
Gen LI
1
;
Jie CHEN
1
Author Information
- Publication Type:Journal Article
- Keywords: Restless legs syndrome; Essential tremor; TENM4
- From: Journal of Apoplexy and Nervous Diseases 2020;37(11):978-983
- CountryChina
- Language:Chinese
- Abstract: Objective The aim of this study was to investigate the relationship between genetic markers of essential tremor and primary restless legs syndrome/Willis-Ekbom Disease （RLS/WED） in southern Chinese population. Methods Totally，121 RLS/WED patients and 300 healthy controls were enrolled based on the diagnostic criteria of International RLS Study Group in 2014.MassARRAY and polymer chain reaction （PCR） and sequencing were used to detect 16 single nucleotide polymorphisms （SNPs） and 16 mutations of 15 genes. Results Our study found that one RLS/WED patient had a heterozygote of p. R1632H of TENM4.However，this patient did not present symptoms of ET. None of other ET risky SNPs was found associated with RLS after Bonferroni correction. Conclusion Our results suggested p. R1632H mutation of TENM4，may be associated with primary RLS/WED in southern Chinese population.
- Full text:2024073115184712719不宁腿综合征_Willis-Ekbom病的原发性震颤易感基因的相关性研究.pdf
