Recent advance in genetics of cerebral small vessel diseases

Abstract

Cerebral small vessel diseases refer to a group of clinical, radiological, or pathological phenomenas with various aetiologies that affect the small arteries, arterioles, capillaries, venules and small veins of the brain. Patients may manifest as cognitive dysfunction, abnormal gait, and/or dysarthria. Cerebral small vessel diseases can be visualized as lacunar infarcts, white matter lesions, cerebral microbleeds, enlarged perivascular spaces and brain atrophy on neuroimaging studies. Its eiology and pathogenesis are complex and complicated. In the recent years, with advances in molecular genetics and studies on hereditary and sporadic cerebral small vessel diseases, several monogenic conditions involving cerebral small vessels have been identified. Monogenic cerebral small vessel disease is a kind of single-gene inherited disease which manifests clinical spectrums involving multiple systems, and cerebral small vessel disease is a common characteristic. Here, we summarized the inheritance patterns, main clinical findings, neuroimaging findings, pathological features and main geneteic traits in monogenic cerebral small vessel disease, and reviewed the genetics mechanism and advance studies of some common forms of sporadic cerebral small vessel disease. Key words: Cerebral small vessel disease; Monogenic hereditary cerebral small vessel disease; Sporadic cerebral small vessel disease; Genetics mechanism