CADASIL SYNDROME Meaning and
Definition
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CADASIL syndrome, also known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is a rare genetic disorder that primarily affects the small blood vessels in the brain. It is characterized by recurrent ischemic stroke and degeneration of white matter in the brain.
Individuals with CADASIL syndrome often develop symptoms in mid-adulthood, typically between the ages of 30 and 50. Symptoms can include migraines, recurrent strokes, cognitive decline, mood disturbances, and difficulty with walking and balance. These symptoms may gradually worsen over time, leading to disability and eventual dementia.
The underlying cause of CADASIL syndrome is a mutation in the NOTCH3 gene. This gene encodes a protein that is involved in the normal function and maintenance of blood vessels. The mutation results in an abnormal accumulation of a protein called Notch3, causing damage to the blood vessels in the brain.
CADASIL syndrome is inherited in an autosomal dominant manner, meaning that individuals with a mutation in one copy of the NOTCH3 gene have a 50% chance of passing the condition on to each of their children. Genetic testing is available to confirm a diagnosis of CADASIL syndrome.
There is currently no cure for CADASIL syndrome, and treatment is primarily focused on managing symptoms and preventing complications. This may include medications to prevent strokes, control blood pressure, manage migraines, and address other symptoms. Supportive care, including physical therapy and counseling, can also be important in improving quality of life for individuals with CADASIL syndrome.
Etymology of CADASIL SYNDROME
The term "CADASIL" is an acronym that stands for "Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy". This name describes the key features of the syndrome.
The word "cerebral" refers to the brain, "autosomal dominant" means the condition is inherited in a dominant manner, "arteriopathy" refers to a disease or disorder of the arteries, "with subcortical infarcts" indicates the presence of small areas of dead tissue in the deeper regions of the brain, and "leukoencephalopathy" describes the degeneration of the white matter of the brain.
In summary, the name CADASIL is derived from a combination of medical terms describing the main characteristics and manifestations of the syndrome.
