Risk Factor Genes in Patients with Dystonia: A Comprehensive Review

Tremor and Other Hyperkinetic Movements

article

Vasileios Siokas¹  Athina-Maria Aloizou¹  Zisis Tsouris¹  Amalia Michalopoulou¹  Alexios-Fotios A. Mentis²  Efthimios Dardiotis¹ 

[1] Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa;Department of Microbiology, University of Thessaly, University Hospital of Larissa;Public Health Laboratories, Hellenic Pasteur Institute

关键词: Dystonia;    genetic polymorphism;    single nucleotide polymorphism;    variant;    cervical dystonia;    blepharospasm;    movement disorders;   

DOI  :  10.5334/tohm.437

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

Background: Dystonia is a movement disorder with high heterogeneity regarding phenotypic appearance and etiology that occurs in both sporadic and familial forms. The etiology of the disease remains unknown. However, there is increasing evidence suggesting that a small number of gene alterations may lead to dystonia. Although pathogenic variants to the familial type of dystonia have been extensively reviewed and discussed, relatively little is known about the contribution of singlenucleotide polymorphisms (SNPs) to dystonia. This review focuses on the potential role of SNPs and other variants in dystonia susceptibility. Methods: We searched the PubMed database for peer-reviewed articles published in English, from its inception through January 2018, that concerned human studies of dystonia and genetic variants. The following search terms were included: ‘‘dystonia’’ in combination with the following terms: 1) ‘‘polymorphisms’’ and 2) ‘‘SNPs’’ as free words. Results: A total of 43 published studies regarding TOR1A, BDNF, DRD5, APOE, ARSG, NALC, OR4X2, COL4A1, TH, DDC, DBH, MAO, COMT, DAT, GCH1, PRKRA, MR-1, SGCE, ATP1A3, TAF1, THAP1, GNAL, DRD2, HLA-DRB, CBS, MTHFR , and MS genes, were included in the current review. Discussion: To date, a few variants, which are possibly involved in several molecular pathways, have been related to dystonia. Large cohort studies are needed to determine robust associations between variants and dystonia with adjustment for other potential cofounders, in order to elucidate the pathogenic mechanisms of dystonia and the net effect of the genes.

【 授权许可】

CC BY