Features of the disease

 

Most people with the disease will suffer from strokes.  These most commonly start when people are in their 30s to 50s although we are discovering that the disease can be very variable and in some people no problems may occur until their 60s. There are a few individuals identified with CADASIL who remain well in their 70s. The strokes are what we refer to as lacunar strokes (literally meaning a small lake or hole in the brain).  Because they are small, they tend to be fairly mild and individuals often recover well.  The most common type of stroke is one that causes weakness affecting one side of the body. If recurrent strokes occur, this can lead to persistent disability which includes arm or leg weakness, slurring of speech and / or changes in cognitive functioning.

 

Migraine is another common feature of the disease.  This most commonly starts in the 20s but the onset is variable.  Usually this is what we call “complex” migraine.  This means that in addition to the headache there are short-lived neurological symptoms, most commonly, some disturbance of vision, numbness down one side of the body or speech disturbance.

 

Individuals with CADASIL can suffer from anxiety or depression.  Not surprisingly, depression is very frequent after any stroke and usually improves with time and treatment if necessary.  Occasionally, however, depression may occur before any other symptoms of CADASIL.

 

Rarely, seizures (fits) occur as part of CADASIL. Over time, as the disease progresses, cognitive problems may occur, most likely in the 50s or 60s. An unusual feature of the disease is the onset of confusion and reduced consciousness over a period of hours or days, sometimes with fever and seizures; this often follows a migraine attack. This is known as encephalopathy. It recovers completely over 1 to 2 weeks and has no long-term effect on the course of the disease.