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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]
Micrograph showing CADASIL with a Notch 3 immunostain. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy . [6] Mutations in NOTCH3 have also been identified in families with Alzheimer's disease. [7]
There are many diseases similar to Binswanger's disease including CADASIL syndrome and Alzheimer's disease, which makes this specific type of white matter damage hard to diagnose. [5] Binswanger disease may be diagnosed by a team of experts including a neurologist and psychiatrist to rule out other psychological or neurological problems. [3]
CARASIL is a rare disease, having only been diagnosed in about 50 patients, of which ten have been genetically confirmed. [3] Most cases have been reported in Japan, [4] [5] but Chinese and caucasian individuals have also been diagnosed with the disease. [6] [1] [3] CARASIL is inherited in an autosomal recessive pattern. [7]
Congenital diseases are medical conditions that are present at birth that may be associated with or inherited through genes. [16] Examples of congenital cerebrovascular diseases include arteriovenous malformations, germinal matrix hemorrhage, and CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy). [9]
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.
With the geneticist Marie-Germaine Bousser, she discovered a genetic disease, designated by the acronym CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), which is an adult-onset disorder characterized by recurrent ischemic strokes, dementia, and premature death. [5]
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]