CADASIL - A Layperson's Description

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CADASIL is an acronym, short for an inherited disease called Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.  

What does that mean? Let's break it down...

  • Cerebral: related to the brain; affecting the brain.

 

  • Autosomal Dominant: CADASIL is caused by a defective gene. You only need one parent with such a gene to pass it on to you at the time of your conception (hence, the term autosomal dominant - you don't need to inherit a second copy from your other parent to get CADASIL). About nine months later, you will be born with CADASIL.

  • Arteriopathy: a disease of the arteries.

  • Subcortical: a region of the brain that is below the cortex. The cortex is the outer layer of the brain…you know, that pinky-grey stuff that is full of folds and curves. Hence, the sub-cortex is the deeper part of the brain, sometimes referred to as the lizard brain, reptilian brain, or mammalian brain.

  • Infarct: a small region of dead tissue caused by a blockage of blood supply in that region.

  • Leukoencephalopathy: disease that affects the white matter within the brain. White matter is found in the subcortical region of the brain (the deeper part of the brain I mentioned above) and it is comprised of nerve fibres (axons), most of which  are bundled together and covered in protective sheaths called myelin. Apart from protection, the purpose of myelin is to process and provide a pathway for nerve signals to move throughout the brain. The colour of myelin is…white…well, whitish.

 

CADASIL is a progressive neuro-degenerative disease, once thought to be rare but, I suspect, soon to be upgraded to “uncommon”. Although one is born with it, symptoms do not appear until later in life. Onset of symptoms is variable, as is the number of symptoms that affect each individual within the CADASIL population and the age at which they become apparent. Severity of the disease is also highly variable, even between family members.

Although not shared by all people who have CADASIL, the main symptoms can include: migraine (usually with aura); trans-ischaemic attacks (TIAs); mild ischaemic strokes (usually lacunar in nature); mood disorders (depression and/or anxiety). Repetitive strokes eventually lead to dementia. Some people display a range of other symptoms as well.

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