Monogenic Causes of Strokes

Genes

Edyta Dziadkowiak¹  Sławomir Budrewicz¹  Justyna Chojdak-Łukasiewicz¹ 

[1] Department of Neurology, Wroclaw Medical University, 50-556 Wroclaw, Poland;

关键词: stroke;    ischemic stroke;    hemorrhagic stroke;    genetics;   

DOI  :  10.3390/genes12121855

来源: DOAJ

【 摘 要 】

Strokes are the main cause of death and long-term disability worldwide. A stroke is a heterogeneous multi-factorial condition, caused by a combination of environmental and genetic factors. Monogenic disorders account for about 1% to 5% of all stroke cases. The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Fabry disease, mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS) and a lot of single-gene diseases associated particularly with cerebral small-vessel disease, such as COL4A1 syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), and Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In this article the clinical phenotype for the most important single-gene disorders associated with strokes are presented. The monogenic causes of a stroke are rare, but early diagnosis is important in order to provide appropriate therapy when available.

【 授权许可】

Unknown