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].

from Journal of the Neurological Sciences https://ift.tt/39yoKr5