Autosomal dominant or sporadic
Inheritance from one parent will result in the disease
Age range at onset:
Typically 40-50 years
Specialists you may see:
Cognitive neurologist; Geneticist; Stroke neurologist
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) results in damage to small blood vessels in the brain. This damage cause the typical symptoms of CADASIL: stroke, cognitive impairment, migraines and psychiatric disturbances.
Severity of symptoms and age of onset vary greatly, but typically begin with strokes between the ages of 40 and 50. Repeated strokes can increase progression of other symptoms. This is the most common indicator of CADASIL, although some with it will never have a stroke. Cognitive impairment typically begins in an individual’s fifties and may result in dementia with age. Migraines in those with CADASIL are often preceded by abnormal feelings or appearance of a bright light; this is called aura. Psychiatric disturbances range from changes to personality and behaviour to severe depression.
Mutations of the NOTCH3 gene cause CADASIL. This gene creates a protein found in the walls of small arteries, with mutations causing abnormal accumulation of these which progressively damage blood vessels in the brain and reduce blood flow. How this happens is not yet understood.
CADASIL is usually inherited from either parent, but can also happen sporadically.