Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Save

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic disorder that affects the blood vessels in the brain. It is caused by mutations in the NOTCH3 gene and is inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the gene mutation from an affected parent.

CADASIL primarily affects small blood vessels in the brain, leading to the accumulation of deposits called granular osmiophilic material (GOM) in the walls of these vessels. Over time, this buildup causes the blood vessels to narrow and become less efficient in supplying oxygen and nutrients to the brain cells, resulting in a variety of neurological symptoms.

1. Subcortical Infarcts: Individuals with CADASIL may experience recurrent subcortical infarcts, which are small areas of tissue damage in the deep regions of the brain. These infarcts can cause various neurological symptoms, such as weakness, difficulty speaking, and problems with coordination.
2. Leukoencephalopathy: CADASIL is characterized by the development of leukoencephalopathy, a condition marked by the degeneration of white matter in the brain. This can lead to cognitive impairment, memory loss, and changes in behavior and mood.
3. Migraine with Aura: Many individuals with CADASIL also experience migraines with aura, which are severe headaches accompanied by visual disturbances, such as flashing lights or blind spots.

Diagnosis of CADASIL involves a thorough evaluation of the individual's medical history, a neurological examination, and genetic testing to identify mutations in the NOTCH3 gene. Currently, there is no specific treatment available for CADASIL, and management focuses on alleviating symptoms and preventing complications.

It is essential for individuals with CADASIL to receive regular medical monitoring, including blood pressure management, as hypertension can exacerbate the progression of the disease. Lifestyle modifications, such as a healthy diet, regular exercise, and avoiding smoking and excessive alcohol consumption, may also be recommended to support overall well-being.

In conclusion, CADASIL is a rare genetic disorder that affects the blood vessels in the brain, leading to subcortical infarcts, leukoencephalopathy, and migraines with aura. Early diagnosis and ongoing medical management are crucial in providing the best possible care for individuals with CADASIL.