The cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited condition that affects the small cerebral arteries within the brain. This causes stroke and other problems with the affected individuals. The muscles that are present around the blood vessels within the brain tend to be abnormal and die over a period of time. This can result in symptoms such as migraines, auras and recurrent epilepsy.
Causes
CADASIL is inherited in an autosomal dominant manner meaning one copy of the defective gene in each of the cells can cause this condition. Although most of these cases are inherited from one of the affected parents, rare cases have been reported when the cause is the result of a new mutation with no prevalence of its history in the family. The defective gene responsible for this condition is the NOTCH3. In healthy individuals, this gene is responsible for delivering the information to produce the notch3 receptor protein essential for the healthy function of the vascular smooth muscle cells. The genetic mutation affects the normal function of this muscle cells resulting in self-destruction. The muscle cells damage in the brain affects the blood vessel thus featuring the symptoms associated with this condition.
Symptoms
Initially, the symptoms may begin as migraines and visual sensations or auras in about 20 – 30% of the cases developing around the age of 20 and 40. The damaged blood vessels can cause tissue death throughout the body and its presence in the brain causes a stroke. The cognitive disorder develops early in the onset of this disease. During the terminal period of this disease, dementia can develop along with problems with walking and balance. In several of these cases, they also develop leukoencephalopathy where changes in the white matter of the brain are evident in the MRI imaging. The epileptic seizures affect around 5 to 10% of the cases and psychiatric disorders may be prevalent in about 10 to 20% of the patients.
Diagnosis
The MRI image of the brain can be used to evaluate the changes in the white matter of the brain. The MRI scan imaging cannot on its own diagnose the case, however, the individual may be suspected of CADSIL if changes of the white matter in the brain are evident. Another method of diagnosis includes the skin biopsy as CADSIL which affects the blood vessels of the body. Hence, the microscopic examination of the accessible blood vessels of the skin can be done. This can include the tissue sample taken from the upper arm or thigh which is observed under the electron microscope to identify changes within the vascular walls. In some cases, the genetic mutation can confirm the CADSIL particularly if evident in the family.
Treatment
There is no cure available for CADSIL, however, the symptoms can be effectively treated. Various conditions such as a migraine and seizures can be treated with medications. The additional treatment can involve the physical therapy, occupational therapy, speech therapy and counseling which some of the affected individuals may benefit. Also, these cases are advised to have a healthy lifestyle to lower the risk of injuries to the blood vessels. Some of the risk factors include high blood pressure, obesity, smoking, high cholesterol and lack of exercise.
References
http://www.butler.org/memory/cadasil/treatment.cfm
http://www.cadasilfoundation.org/what.html
https://www.ncbi.nlm.nih.gov/books/NBK1500/
