CADASIL syndrome

CADASIL Syndrome (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare genetic disorder that affects the small blood vessels in the brain. It is characterized by migraines, mood disorders, recurrent strokes, and progressive cognitive decline.

Etiology[edit | edit source]

CADASIL Syndrome is caused by mutations in the NOTCH3 gene, which provides instructions for producing a protein that is critical for the normal function and survival of vascular smooth muscle cells. The mutations lead to the accumulation of abnormal NOTCH3 protein in the walls of small and medium-sized arteries, leading to their degeneration and the characteristic symptoms of CADASIL.

Clinical Features[edit | edit source]

The clinical features of CADASIL Syndrome typically begin in adulthood and progress over time. The most common initial symptom is migraine with aura, followed by mood disturbances such as depression and bipolar disorder. As the disease progresses, individuals may experience recurrent strokes, leading to motor disability and aphasia. Cognitive decline is also common, often progressing to dementia.

Diagnosis[edit | edit source]

Diagnosis of CADASIL Syndrome is based on clinical features, family history, and genetic testing for mutations in the NOTCH3 gene. Magnetic Resonance Imaging (MRI) often shows characteristic white matter lesions even before the onset of clinical symptoms.

Treatment[edit | edit source]

There is currently no cure for CADASIL Syndrome. Treatment is symptomatic and supportive, focusing on managing individual symptoms such as migraines, mood disorders, and stroke prevention.

Prognosis[edit | edit source]

The prognosis of CADASIL Syndrome varies widely, depending on the severity of symptoms and the individual's overall health. Life expectancy is typically reduced, with most individuals passing away from complications of stroke or dementia.