Brain MRI in Monogenic Cerebral Small Vessel Diseases: A Practical Handbook

Monogenic cerebral small vessel diseases are a topic of growing interest, as several genes responsible have been recently described, and new sequencing techniques such as Next-generation sequencing are available. Brain imaging is significant for the detection of these diseases. Since it is often performed at an initial stage, an MRI is a key to selecting patients for genetic testing and for interpreting next-generation sequencing reports. In addition, neuroimaging can be helpful in describing the underlying pathological mechanisms involved in cerebral small vessel disease. In this review, we aim to provide neurologists and stroke physicians with an up-to-date overview of the current neuroimaging knowledge on monogenic small vessel diseases.

Automated summary

Monogenic cerebral small vessel diseases are attracting increasing attention due to recent advances in genetic research and new sequencing techniques. Brain imaging plays a crucial role in the detection of these diseases and understanding their underlying pathological mechanisms.