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CADASIL

Abstract

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NORD is very grateful to Dr. Dominique Herve, Reference Centre for Rare Vascular Diseases of the Central Nervous System and the Retina (CERVCO), Department of Neurology, Lariboisiere Hospital, APHP, Paris, France, for assistance in the preparation of this report.

Synonyms of CADASIL

  • cerebral autoDom arteriopathy w/subcortical infarcts & leukoencephalopathy
  • hereditary multi-infarct dementia

Disorder Subdivisions

  • No subdivisions found.

General Discussion

CADASIL is a rare genetic disorder affecting the small blood vessels in the brain.
The age of onset, severity, specific symptoms and disease progression varies greatly from one person to another, even among members of the same family. CADASIL is an acronym that stands for:

(C)erebral - relating to the brain (A)utosomal (D)ominant - a form of inheritance in which one copy of an abnormal gene is necessary for the development of a disorder.

(A)rteriopathy - disease of the arteries (blood vessels that carry blood away from the heart)

(S)ubcortical - relating to specific areas of the brain supplied by deep small arteries

(I)nfarcts - tissue loss in the brain caused by lack of oxygen to the brain, which occurs when blood flow in the small arteries is severly reduced or interupted

(L)eukoencephalopathy - refers to lesions in the brain white mattter caused by the disease and well observed on MRI

CADASIL Resources

Organizations:

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