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CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder and is thought to be caused by mutations of the NOTCH3 gene on chromosome 19. [1]
The prognosis for individuals with CARASIL is progressive neurological decline over the course of 10–20 years after the onset of symptoms, ultimately ending in death. CARASIL is a degenerative disease, and most patients live only 10 years past symptom onset, [3] although some may live for 20–30 more years. [2]
List of medical symptoms. Medical symptoms refer to the manifestations or indications of a disease or condition, perceived and complained about by the patient. [1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals.
These symptoms usually coincide with multiple falls, epilepsy, fainting, and uncontrollable bladder. [5] Because Binswanger's disease affects flow processing speed and causes impaired concentration, the ability to do everyday tasks such as managing finances, preparing a meal and driving may become very difficult. [3]
Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor eIF2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5. The disease belongs to a family of conditions called the Leukodystrophies.
Patients are often started on an antiplatelet (e.g. aspirin, clopidogrel) or occasionally an anticoagulant (e.g. warfarin) to reduce the risk of future strokes. Where VBI is causing reproducible symptoms due to stenosis, lifestyle modification to avoid provoking factors (e.g. dehydration, standing rapidly from sitting or lying) may reduce symptoms.
Brain ischemia has been linked to a variety of diseases or abnormalities. Individuals with sickle cell anemia, compressed blood vessels, ventricular tachycardia, plaque buildup in the arteries, blood clots, extremely low blood pressure as a result of heart attack, and congenital heart defects have a higher predisposition to brain ischemia in comparison to the average population.
Bousser is most well known for her role in the discovery of CADASIL, a hereditary form of stroke. [3] She researched the, then unnamed, condition for the first time in 1976, when a patient entered her clinic with signs of Binswanger's disease after suffering a stroke. [4]