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Stroke genetics: discovery, biology, and clinical applications | Neurodiem

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Your name. Note Your email address is used only to let the recipient know who sent the email. Your message. A stroke can be defined as a lack of blood flow to the brain resulting in a loss of brain function.


Typically a stroke is only classified as such when sensory deficit persists for greater than 24 hours. If the symptoms resolve completely within 24 hours this is referred to as a TIA or transient ischaemic attack. The sensory deficit associated with stroke can range from mild with complete resolution through to severe or fatal depending upon the region of the brain which loses blood supply.

Restoration of function can also range from complete to none, making stroke the leading cause of disability worldwide. Strokes can be divided into two broad categories depending upon the cause of the interrupted blood flow to the brain. This leads to blood accumulating in the sub-arachnoid space defined as a sub-arachnoid haemorrhage or SAH or accumulation of blood in the intra-cerebral space defined as an intra-cerebral haemorrhage or ICH. Ischaemic strokes are due to a lack of blood supply through small perforating arteries in the brain which supply localised areas of brain tissue.

Stroke Genetics Network (SiGN) Study

Interruption of this blood supply leads to small, localised regions of cellular death due to a lack of oxygen ischaemia. This lack of blood flow through small perforating arteries of the brain can have a number of causes which allows a further classification of ischaemic stroke into several distinct subtypes. The first of these subtypes is called small vessel disease SVD and is a consequence of fatty deposits building up on the blood vessel wall, eventually causing a blockage of the small perforating blood vessels and resulting ischaemia in the downstream brain tissue.

This fatty build up, known as atherosclerosis, occurs in all vessels throughout the body primarily as a consequence of a high fat diet. These deposits, or plaques, can also form in large vessels such as the carotid artery in the neck or the coronary artery supplying blood from the heart. If such a plaque ruptures the lipid core can cause blood to clot around the ruptured plaque, leading to possible blockage of the vessel.