Abstract
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.
Highlights
Strokes are the most common cause of death and disability worldwide
The key search terms applied in PubMed via MEDLINE and Google Scholar were “stroke” and “ischemic” or “hemorrhagic” and “genetic” or “monogenic”
The genetic form of cerebral amyloid angiopathy or mutations of soft tissue can be connected with the increased risk of intracranial bleeding
Summary
Strokes are the most common cause of death and disability worldwide. The pathogenesis of a stroke is multi-factorial and incompletely understood. According to the TOAST (trial of ORG 10172 in acute stroke treatment) classification, the etiology of a stroke is divided in five categories: large vessel disease (extracranial and intracranial), small vessel disease, cardiovascular embolism, strokes of other etiology and strokes of unspecified etiology [2]. Genetic factors are more responsible for small- and large-vessel disease than in the cardio-embolic etiology of a stroke. Many different types of disease like strokes can be passed down through families. The monogenic condition is responsible for 1% of strokes, especially in younger patients, but the data is underestimated [4]. The real genetic impact of the origin of strokes is still unknown
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