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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • CASIL
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Dementia, hereditary multi-infarct type
  • Familial vascular leukoencephalopathy
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Overview



What is CADASIL?

What are the signs and symptoms of CADASIL?

How might CADASIL be treated?

What is the prognosis for individuals with CADASIL?


What is CADASIL?

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and multiple strokes, which progresses to dementia. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life.[1] CADASIL is caused by a change (or mutation) in a gene called NOTCH3 and is inherited in an autosomal dominant manner.[1][2]
Last updated: 3/22/2011

What are the signs and symptoms of CADASIL?

Strokes are the main feature of the disease. The mean age at onset for stroke-like episodes is 46 years. These stroke-like episodes are often recurrent, leading to severe disability with inability to walk and urinary incontinence. Cognitive deficits, the second most frequent feature, are observed in over half of symptomatic individuals and may start as early as age 35 years. Most experience slowly progressive cognitive decline and approximately 75% of affected individuals develop dementia (severe deficits in executive functioning, verbal fluency, and memory). Migraines with aura occur in about 35% of individuals with CADASIL, with the first attack occurring at a mean age of 26 years. Thirty percent of individuals with CADASIL experience psychiatric disturbance, varying from personality changes to severe depression. Epilepsy is present in 10% of individuals with CADASIL and presents at middle age.[3]
Last updated: 3/22/2011

How might CADASIL be treated?

There is no treatment to halt this genetic disorder. Individuals are given supportive care. Migraine headaches may be treated by different drugs and a daily aspirin may reduce stroke and heart attack risk. Drug therapy for depression may be given. Affected individuals who smoke should quit as it can increase the risk of stroke in CADASIL.[1]
Last updated: 3/22/2011

What is the prognosis for individuals with CADASIL?

Symptoms usually progress slowly. By age 65, the majority of persons with CADASIL have severe cognitive problems and dementia. Some people lose the ability to walk and most become completely dependent due to multiple strokes.[1]

Data on the long-term prognosis come from a large study of 411 individuals, which found that the median age at onset of inability to walk without assistance was 60 years and the median age at onset of being bedridden was 64 years. The median age at death was 68 years with a more rapid disease progression in men than in women. At their time of death, 78% of individuals were completely dependent and 63% were confined to bed. Pneumonia was the most frequent cause of death.[3]
Last updated: 3/22/2011

References
  1. NINDS CADASIL Information Page. National Institute of Neurological Disorders and Stroke (NINDS). October 13, 2009; http://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm. Accessed 3/22/2011.
  2. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Genetics Home Reference (GHR). May 2008; http://ghr.nlm.nih.gov/condition=cerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathy. Accessed 6/14/2011.
  3. Lesnik Oberstein SAJ, Boom EMJ, Dichgans M. CADASIL. GeneReviews. July 23, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1500/. Accessed 3/22/2011.