CADASIL syndrome, which stands for “Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy,” is a hereditary genetic disease that affects the small blood vessels in the brain. Here is basic information about this syndrome:
Inheritance
CADASIL is inherited in an autosomal dominant manner, which means that a single copy of the mutated gene from one parent is enough for the disease to manifest. The responsible gene is NOTCH3.
Symptoms of CADASIL
The symptoms of CADASIL usually appear between the third and sixth decade of life. Common symptoms include recurrent migraines, strokes, cognitive problems, personality changes, and dementia. The strokes are typically ischemic, caused by blockage of the blood vessels.
Recurrent migraines
People with CADASIL often experience severe and recurrent migraines. These migraines may begin in youth or early adulthood and are one of the most common symptoms in the early stages of the disease.
Strokes (CVA)
Individuals affected by CADASIL have a higher risk of experiencing strokes, specifically ischemic ones. These strokes can cause symptoms such as sudden weakness on one side of the body, difficulty speaking, loss of coordination, or sudden changes in vision.
Cognitive problems
Over time, people with CADASIL may experience progressive cognitive decline. This can include difficulties with memory, concentration, information processing, and other mental functions. In more advanced stages, some individuals may develop dementia.
Personality and behavioral changes
CADASIL can affect the personality and behavior of affected individuals. They may experience changes in conduct, motivation, impulsivity, or decision-making ability. These changes may be subtle at first but tend to become more noticeable as the disease progresses.
Psychiatric disorders
Some people with CADASIL may develop psychiatric disorders such as depression or anxiety as part of the disease. These mental health issues can be a direct consequence of the changes in the brain caused by the condition.
It is important to note that the severity and combination of these symptoms can vary significantly among individuals affected by CADASIL. In addition, the progression of the disease may differ in each case, making the clinical presentation variable.
If someone shows symptoms suggestive of CADASIL or has a family history of the disease, it is recommended to seek medical attention for specific diagnostic tests and guidance on disease management.
Brain changes
CADASIL syndrome is characterized by the accumulation of protein deposits called granular osmiophilic material in the walls of small blood vessels in the brain. These deposits can damage the blood vessels and affect cerebral circulation, leading to ischemia and the symptoms mentioned.
Diagnosis
The diagnosis of CADASIL is made through genetic testing to detect mutations in the NOTCH3 gene. Neuroimaging tests can also be used to evaluate changes in the brain.
Treatment
Currently, there is no specific treatment for CADASIL. The approach focuses on managing symptoms and preventing complications, such as controlling blood pressure and addressing vascular risk factors.
Prognosis
The progression of the disease can vary among affected individuals. Some people may lead a relatively normal life for many years, while in other cases, the disease may progress rapidly. Dementia is a common finding in the advanced stages.
Genetic counseling
Since CADASIL is hereditary, genetic counseling is recommended for individuals with a family history of the disease. Genetic testing can help determine whether a person carries the NOTCH3 gene mutation and therefore has a risk of passing the disease on to their offspring.
Conclusion
In summary, CADASIL syndrome is a hereditary genetic disease that affects the small blood vessels in the brain. Its characteristic symptoms include recurrent migraines, strokes, cognitive problems, personality changes, and psychiatric disorders.
The disease is caused by mutations in the NOTCH3 gene and is inherited in an autosomal dominant manner. Although there is no specific treatment for CADASIL, management focuses on controlling symptoms and reducing vascular risk factors. Diagnosis and genetic counseling are essential for understanding and addressing the disease, and it is recommended to seek guidance from healthcare professionals in cases of suspected CADASIL.
If you would like more information about NeuroAiD II, please fill out this contact form.
"*" indicates required fields
