Patients with CADASL have inflammation of the small blood vessels in their heads, which causes headaches and an increased risk of strokes and memory problems.
The abbreviation parsed
CADASIL is therefore an abbreviation and each word or word combination gives more meaning to the disease. Cerebral refers to the brain. Autosomal Dominant deals with the heredity of the disease. Arteriopathy involves inflammation of the blood vessels and subcortical infarcts indicate small strokes deeper in the brain. Finally, with leukoencephalopathy, it is said that the white matter in the brain works less well.
Heredity CADASIL
CADASIL is therefore a hereditary brain disease and children of a parent with this disorder have a 50 percent chance of getting the disease. A change in the NOTCH3 gene causes the wrong protein to be produced, which causes CADASIL. The body cannot handle the protein properly, so that it gets stuck in the blood vessels and accumulates there. The cells in the wall of the arteries become damaged. As a result, patients have less blood and oxygen going to their brains.
It is not known how many people have CADASIL. It is probably about one in 25,000 to 50,000 people. If one of the future parents is known to have CADASIL, chorionic villus sampling or amniocentesis can be done during pregnancy to determine if the child also has the disease.
Symptoms CADASIL
Due to the lack of oxygen in the brain, someone can get a TIA or stroke. People with CADASIL also have problems with keeping an overview, attention problems and problems with memory. Migraine, gloom or depression and dementia are also important features of CADASIL.
Usually a person does not get TIAs and cerebral infarctions until adulthood, followed by cognitive problems and migraines. A GP can then give a referral to a neurologist or clinical geneticist who can use various tests to determine whether a patient has CADASIL. For example, a physical examination is done and an MRI scan and a DNA test are usually performed.
There are some conditions that used to have their own names but are now covered by CADASIL, including familial or subcortical dementia, hereditary multi-infarct dementia, and chronic familial vascular encephalopathy.
Can CADASIL be treated?
CADASIL has no cure. However, there are treatments that can make life more pleasant for people with the brain disease, for example medicines for the treatment of migraine, aspirin for a lower risk of having a stroke and high blood pressure can be treated for this to reduce the risk of a stroke. reduce new cerebral infarction.
Physiotherapy can help patients who suffer from paralysis of muscles after an infarction to train them. An occupational therapist can determine the best way for a patient who has a cerebral infarction or dementia to perform certain everyday activities. Speech therapy is available for people with speech, chewing or swallowing problems and a rehabilitation doctor can coordinate the various treatments.
Life expectancy at CADASIL
Men with CADASIL have an average life expectancy of 10 years shorter than men without it. Women with CADASIL have a similar life expectancy to women without. Life expectancy depends on the number of cerebral infarctions of a patient and whether they have dementia. If cerebral infarctions are common and a patient also has a severe form of dementia, life expectancy is clearly shorter.
Read also: Living with a rare disease: ‘I’ve seen what can happen to me’
By: National Care Guide / Johanne Levinsky
Sources: Kinderneurologie.eu, Hersenstichting, Erfheid.nl
2023-08-24 06:00:00
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