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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes (MELAS)

  • Sarah Benisty
  • Hugues Chabriat
Chapter

CADASIL

Definition and Genetic and Pathological Aspects

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) (Tournier-Lasserve, Joutel et al., 1993) is an inherited small artery disease of the brain caused by mutations of the NOTCH3 gene on chromosome 19 (Joutel, Corpechot, Ducros et al., 1996). It is considered as a model of “pure” vascular dementia related to a small vessel disease and as an archetype of the so-called “subcortical ischemic vascular dementia” (Charlton, Morris, Nitkunan, & Markus, 2006). CADASIL is not limited to Caucasians families, although the disorder was initially recognized in European pedigrees. It has now been diagnosed in Asian, African, American as well as in Australian and European families. In France, Germany, and United Kingdom, several hundreds of CADASIL families have been identified (Dichgans, Mayer et al., 1998). Though the exact frequency of CADASIL remains unknown, it is now considered as one of the...

Keywords

Diffusion Tensor Imaging Migraine With Aura Lacunar Infarct NOTCH3 Gene Granular Osmiophilic Material 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  1. 1.Department of Geriatric medicine and Department of NeurologyHopital Lariboisiere-Fernand-Widal, Université Paris VIIFrance

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