What is Cadasil (Cerebral Autosomal Dominant Arteriopathy With Sub-Cortical Infarcts And Leukoencephalopathy)

Cadasil (Cerebral Autosomal Dominant Arteriopathy With Sub-Cortical Infarcts And Leukoencephalopathy) is a rare genetic disorder that affects the small blood vessels in the brain. It is an inherited condition caused by mutations in the NOTCH3 gene.

Individuals with Cadasil may experience a range of symptoms including migraines, recurrent strokes, cognitive decline, and psychiatric disturbances. These symptoms typically appear in mid-adulthood, but can also manifest earlier or later in life.

The hallmark of Cadasil is the accumulation of deposits called granular osmiophilic material (GOM) in the walls of small blood vessels in the brain. This leads to the narrowing and eventual blockage of these vessels, resulting in reduced blood flow and oxygen supply to the brain.

Diagnosis of Cadasil involves genetic testing to identify mutations in the NOTCH3 gene. While there is currently no cure for Cadasil, treatment focuses on managing symptoms and preventing complications. This may involve medications to control blood pressure, prevent blood clots, and manage migraines.

As Cadasil is a genetic disorder, genetic counseling is recommended for individuals with a family history of the condition. It is important to raise awareness about Cadasil to facilitate early diagnosis and appropriate management.