An Italian family carrying a new mutation in the COL4A1 gene

Cerebral small vessel disease (SVD) is a group of pathologies affecting small arteries, arterioles, capillaries and small veins in the brain [1]. Neurological findings include cognitive impairment, dysfunction of gait and balance, mood disorders, increased risk of stroke and dementia. Cerebral SVD is driven by a complex mix of environmental and genetic risk factors; both familial and sporadic conditions have been reported [2]. Mutations in the NOTCH3, HTRA1, COL4A1, COL4A2 and TREX1A genes are known to cause the familial forms of SVD [2].

Source: Journal of the Neurological Sciences - March 30, 2020 Category: Neurology Authors: A. Russo, A.M. Pinto, D. Lopergolo, A. Renieri, C. Battisti Tags: Letter to the Editor Source Type: research