KOR

e-Article

Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke
Document Type
Source
European Journal of Human Genetics MultiPark: Multidisciplinary research focused on Parkinson´s disease EpiHealth: Epidemiology for Health. 31(2):239-242
Subject
Medicin och hälsovetenskap
Klinisk medicin
Neurologi
Medical and Health Sciences
Clinical Medicine
Neurology
Language
English
ISSN
1476-5438
Abstract
This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and associated with one or more clinical subgroups: large artery atherosclerotic, large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection or occlusion), cerebral small vessel diseases, cardio-embolic (arrhythmia, heart defect, cardiomyopathy), coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), intracerebral hemorrhage, vascular malformations (cavernoma, arteriovenous malformations) and metabolism disorders; and SGP2: genes related to diseases that may predispose to stroke. We identified 168 SGP1 genes, 70 of these were validated for clinical practice. We also detected 72 SGP2 genes. Nine genes were removed because of conflicting evidence. The number of genes increased from 168 to 240 during 4.5-years, reflecting a dynamic evolution and the need for regular updates for research and clinical use.