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CADASIL

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Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, CADASIL, is the most common inherited cause of stroke and vascular dementia in adults. CADASIL is caused by mutations in the NOTCH3 gene. The clinical presentation and age of onset of CADASIL are variable even within families. CADASIL’s cardinal features are migraine with aura, subcortical ischemic events, cognitive impairment with progression to dementia, and psychiatric disturbances. Seizures occur in 5–10 % of patients. Family histories of CADASIL are complicated by misdiagnoses of other types of strokes or of multiple sclerosis. This chapter reviews the presentation, genetics, and counseling issues of CADASIL.

Keywords

  • Genetic Testing
  • Genetic Counseling
  • Vascular Dementia
  • Migraine With Aura
  • White Matter Hyperintensities

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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Fig. 11.1

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Correspondence to Jamie C. Fong .

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Fong, J.C. (2015). CADASIL. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_11

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