Brain small vessel disease

Definition:

Brain small vessel disease (BSVD) cause lacunar infarcts, cerebral microbleeds, or diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset. To date, several genes have been associated with hereditary BSVD. Mutations in the COL4A1 gene, encoding the a1 chain of type IV collagen, cause brain small vessel disease with hemorrhage, that is a condition associated with diffuse leukoencephalopathy and ocular malformations.

References:

[1]. I Volonghi, et al. Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome. Curr Med Chem. 2010;17(13):1317-24. [Content Brief]

[2]. Igor Sibon, et al. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol. 2007 Aug;62(2):177-84. [Content Brief]

[3]. Sara Zagaglia, et al. Neurologic phenotypes associated with COL4A1/ 2 mutations: Expanding the spectrum of disease. Neurology. 2018 Nov 27;91(22):e2078-e2088. [Content Brief]

[4]. Satoko Miyatake, et al. Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Ann Neurol. 2018 Dec;84(6):843-853. [Content Brief]

[5]. Silvia Lanfranconi, et al. COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke. 2010 Aug;41(8):e513-8. [Content Brief]

[6]. Y Yamamoto, et al. Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. Neuropathol Appl Neurobiol. 2011 Feb;37(1):94-113. [Content Brief]

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