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CADASIL

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Genetic Counseling for Adult Neurogenetic Disease

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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.

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Authors and Affiliations

  1. Department of Neurology, Memory and Aging Center, University of California, MC:1207, 675 Nelson Rising Lane, Suite 190, San Francisco, CA, 94158, USA

    Jamie C. Fong

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  1. Jamie C. Fong
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Correspondence to Jamie C. Fong .

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Editors and Affiliations

  1. Taub Institute, Columbia University Medical Center, New York, New York, USA

    Jill S. Goldman

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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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