From: deputyfife23x@gmail.com   
      
   Reviewed May 2013   
   What is CADASIL?   
      
   Cerebral autosomal dominant arteriopathy with subcortical infarcts and   
   leukoencephalopathy, usually called CADASIL, is an inherited condition that   
   causes stroke and other impairments. This condition affects blood flow in   
   small blood vessels, particularly    
   cerebral vessels within the brain. The muscle cells surrounding these blood   
   vessels (vascular smooth muscle cells) are abnormal and gradually die. In the   
   brain, the resulting blood vessel damage (arteriopathy) can cause migraines,   
   often with visual    
   sensations or auras, or recurrent seizures (epilepsy).   
   Damaged blood vessels reduce blood flow and can cause areas of tissue death   
   (infarcts) throughout the body. An infarct in the brain can lead to a stroke.   
   In individuals with CADASIL, a stroke can occur at any time from childhood to   
   late adulthood, but    
   typically happens during mid-adulthood. People with CADASIL often have more   
   than one stroke in their lifetime. Recurrent strokes can damage the brain over   
   time. Strokes that occur in the subcortical region of the brain, which is   
   involved in reasoning and    
   memory, can cause progressive loss of intellectual function (dementia) and   
   changes in mood and personality.   
   Many people with CADASIL also develop leukoencephalopathy, which is a change   
   in a type of brain tissue called white matter that can be seen with magnetic   
   resonance imaging (MRI).   
   The age at which the signs and symptoms of CADASIL first begin varies greatly   
   among affected individuals, as does the severity of these features.   
   CADASIL is not associated with the common risk factors for stroke and heart   
   attack, such as high blood pressure and high cholesterol, although some   
   affected individuals might also have these health problems.   
   How common is CADASIL?   
      
   CADASIL is likely a rare condition; however, its prevalence is unknown.   
   What genes are related to CADASIL?   
      
   Mutations in the NOTCH3 gene cause CADASIL. The NOTCH3 gene provides   
   instructions for producing the Notch3 receptor protein, which is important for   
   the normal function and survival of vascular smooth muscle cells. When certain   
   molecules attach (bind) to    
   Notch3 receptors, the receptors send signals to the nucleus of the cell. These   
   signals then turn on (activate) particular genes within vascular smooth muscle   
   cells.   
   NOTCH3 gene mutations lead to the production of an abnormal Notch3 receptor   
   protein that impairs the function and survival of vascular smooth muscle   
   cells. Disruption of Notch3 functioning can lead to the self-destruction   
   (apoptosis) of these cells. In    
   the brain, the loss of vascular smooth muscle cells results in blood vessel   
   damage that can cause the signs and symptoms of CADASIL.   
   Read more about the NOTCH3 gene.   
   How do people inherit CADASIL?   
      
   This condition is inherited in an autosomal dominant pattern, which means one   
   copy of the altered NOTCH3 gene in each cell is sufficient to cause the   
   disorder.   
   In most cases, an affected person inherits the mutation from one affected   
   parent. A few rare cases may result from new mutations in the NOTCH3 gene.   
   These cases occur in people with no history of the disorder in their family.   
   Where can I find information about diagnosis or management of CADASIL?   
      
   These resources address the diagnosis or management of CADASIL and may include   
   treatment providers.   
   Butler Hospital: Treatment and Management of CADASILThis link leads to a site   
   outside Genetics Home Reference.   
   Gene Review: CADASILThis link leads to a site outside Genetics Home Reference.   
   Genetic Testing Registry: Cerebral autosomal dominant arteriopathy with   
   subcortical infarcts and leukoencephalopathyThis link leads to a site outside   
   Genetics Home Reference.   
   MedlinePlus Encyclopedia: Multi-Infarct DementiaThis link leads to a site   
   outside Genetics Home Reference.   
   You might also find information on the diagnosis or management of CADASIL in   
   Educational resources and Patient support.   
   General information about the diagnosis and management of genetic conditions   
   is available in the Handbook. Read more about genetic testing, particularly   
   the difference between clinical tests and research tests.   
   To locate a healthcare provider, see How can I find a genetics professional in   
   my area? in the Handbook.   
   Where can I find additional information about CADASIL?   
      
   You may find the following resources about CADASIL helpful. These materials   
   are written for the general public.   
   MedlinePlus - Health information (3 links)   
   Genetic and Rare Diseases Information CenterThis link leads to a site outside   
   Genetics Home Reference. - Information about genetic conditions and rare   
   diseases   
   Additional NIH Resources - National Institutes of Health (2 links)   
   Educational resources - Information pages (3 links)   
   Patient support - For patients and families (4 links)   
   You may also be interested in these resources, which are designed for   
   healthcare professionals and researchers.   
   Gene ReviewsThis link leads to a site outside Genetics Home Reference. -   
   Clinical summary   
   Genetic Testing Registry - Repository of genetic test information (1 link)   
   ClinicalTrials.govThis link leads to a site outside Genetics Home Reference. -   
   Linking patients to medical research   
   PubMedThis link leads to a site outside Genetics Home Reference. - Recent   
   literature   
   OMIMThis link leads to a site outside Genetics Home Reference. - Genetic   
   disorder catalog   
   What other names do people use for CADASIL?   
      
   cerebral arteriopathy with subcortical infarcts and leukoencephalopathy   
   familial vascular leukoencephalopathy   
   hereditary dementia, multi-infarct type   
   For more information about naming genetic conditions, see the Genetics Home   
   Reference Condition Naming Guidelines and How are genetic conditions and genes   
   named? in the Handbook.   
   What if I still have specific questions about CADASIL?   
      
   Ask the Genetic and Rare Diseases Information CenterThis link leads to a site   
   outside Genetics Home Reference..   
   Where can I find general information about genetic conditions?   
      
   The Handbook provides basic information about genetics in clear language.   
   What does it mean if a disorder seems to run in my family?   
   What are the different ways in which a genetic condition can be inherited?   
   If a genetic disorder runs in my family, what are the chances that my children   
   will have the condition?   
   Why are some genetic conditions more common in particular ethnic groups?   
      
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