Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic condition that affects the blood vessels in the brain. It is a form of small vessel disease that leads to a range of symptoms, including stroke, migraines with aura, mood disturbances, and cognitive decline. CADASIL is notable for its autosomal dominant inheritance pattern, meaning that a child has a 50% chance of inheriting the disorder if one parent carries the gene mutation responsible for the disease.

Causes

CADASIL is caused by mutations in the NOTCH3 gene on chromosome 19. This gene is essential for the health and function of the smooth muscle cells in the walls of small blood vessels. Mutations in NOTCH3 lead to the accumulation of a protein, causing the walls of these vessels to thicken and reduce blood flow to the brain, resulting in the symptoms associated with the disorder.

Symptoms

The symptoms of CADASIL can vary widely among individuals but typically include:

• Migraines with Aura: Severe headaches often accompanied by sensory disturbances.
• Subcortical Ischemic Strokes: Strokes that occur in the deeper, subcortical parts of the brain, leading to physical and cognitive impairments.
• Cognitive Decline: Progressive loss of memory and thinking skills, which can eventually lead to dementia.
• Mood Disturbances: Depression and mood swings are common among individuals with CADASIL.
• Epilepsy: In some cases, individuals may develop seizures.

Diagnosis

Diagnosis of CADASIL involves a combination of clinical evaluation, family history, MRI scans showing characteristic patterns of brain damage, and genetic testing to identify mutations in the NOTCH3 gene.

Treatment

There is no cure for CADASIL, and treatment focuses on managing symptoms and reducing the risk of stroke. This may include medication to control blood pressure, cholesterol levels, and to prevent blood clots. Supportive therapies, such as physical therapy, occupational therapy, and cognitive rehabilitation, may also be beneficial.

Prognosis

The prognosis for individuals with CADASIL varies. While the disease is progressive, the rate at which symptoms worsen can differ significantly from person to person. Early diagnosis and management of symptoms can improve quality of life.

See Also

• Stroke
• Leukoencephalopathy
• Genetic Disorders
• Vascular Dementia

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