Symptoms of the Disease 

The four most common symptoms of the disease
 appear during adulthood

• Migraine attacks with aura

• Strokes (CVA- Cerebrovascular Accidents)

• Psychiatric and cognitive disorders

• Progression towards to memory problems, difficulty in walking and sometimes a loss of autonomy.

Before symptoms start appearing, there is a more or less long preliminary period during which abnormalities can be observed under MRI brain scans.

The Orphanet documentation, which was developed in collaboration with CERVCO and CADASIL France association, provides a description of the disease and its symptoms: Read Orphanet Document

Migraine attacks with aura

These are throbbing and intense headaches, often predominant on one side of the head, sometimes accompanied by nausea, vomiting and intolerance to noise and light. These headaches can be quite severe. They are sometimes preceded by abnormal perceptions called “aura”, always regressive in nature such as temporary disturbances of sensation or loss of motor functions in part of the body, vision problems, speech disorders, balance disorders. Migraine attacks with aura are the earliest manifestations of the disease. They affect one out of three patients and may appear between 30 and 40 years.

Strokes

Cerebrovascular Accidents (CVA), commonly known as "strokes” or “brain attacks", correspond to a lesion caused by a lack of blood supply (vascular occlusion) or a small hemorrhage. They can result in various neurological manifestations of acute nature and variable intensity:

• Loss of motor skills or sensitivity of a part of body, up to hemiplegia i.e. partial or total paralysis of one side of body.

• Speech impairment.

• Difficulty in balance or coordination of movements.

These cerebral infarctions and their resulting effects are the most common signs of the disease, affecting approximately three out of four patients. They occur most often between the age of 40 and 50 years, even if the person does not present any vascular risk factor (heavy smoking, hypertension).

Often, precursor symptoms called "Transient Ischemic Attacks" (TIA), may occur a few minutes to an hour before, and disappear by themselves. These signs may be temporary loss of strength, paralysis of an arm or a leg or a half of the body, loss of speech, or vision, of a few minutes duration.

The severity of strokes depends on the location and extent of brain damage. The disorders caused by strokes can become permanent as the disease progresses: neurological deficit, paralysis on one side of the body, balance and walking disorders, loss of sensitivity of a part of body, trouble in movement coordination, speech disorder etc.

The recovery possibilities are real. But they vary from one individual to another.

One also notes that strokes in CADASIL may appear in the absence of hypertension or high cholesterol.

Psychiatric and cognitive disorders

Patients with CADASIL may experience episodes of depression, apathy (loss of motivation and interest in current activities and projects) or more rarely, periods of psychomotor agitation (unintentional and purposeless motions such as pacing around the room, wringing one’s hands etc.).

These disorders appear rarely at the onset of the disease. They can manifest throughout the evolution of the disease and sometimes following a stroke.

Possible evolution towards a dementia syndrome

This syndrome results in a decline, in steps or gradual, of the patient's physical and cognitive abilities: attention and memory disorders, loss of initiative. It can evolve towards a loss of autonomy resulting in difficulty in moving around and achieving basic functions of daily life. Executive functions begin to slow down (see link Article Apathy). This syndrome represents the second most common manifestation of the disease. Its frequency increases with age.

It should be noted that manifestations of the disease can appear in the absence of hypertension or high cholesterol (which are the most common risk factors of strokes).

Inter-individual variability

There is a wide variability of symptoms among patients with CADASIL. There is also variability in the intensity of disorders and when symptoms start to appear (mean age: 45 years).

Intra-family variability

Within the same family, the number and intensity of various symptoms can vary between two carriers of the same disease, as well as the age when these relatives begin to experience some symptoms. ♦