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CADASIL and Animal Models

  • Francesco Blasi
  • Anand Viswanathan
  • Cenk Ayata
Chapter
Part of the Springer Series in Translational Stroke Research book series (SSTSR, volume 4)

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common cause of inherited stroke and vascular dementia in young and middle-aged adults. The wide and heterogeneous clinical spectrum ranges from migraine with aura to leukoaraiosis and subcortical lacunar strokes, and mood disturbances, apathy and cognitive impairments. Since its genetic definition in early 1990s, an increasing number of clinical and experimental studies aimed to elucidate the relationship between CADASIL mutations on NOTCH3 gene and the pathology, aided by the development of transgenic mouse models expressing CADASIL mutations as experimental tools. In this chapter, we provide a brief review of animal models of CADASIL with an emphasis on neuropathological consequences including white matter disease.

Keywords

Middle Cerebral Artery Occlusion Migraine With Aura Spreading Depression Notch3 Gene Lacunar Stroke 
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.

Abbreviations

BBB

Blood–brain barrier

CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

CBF

Cerebral blood flow

CVR

Cerebrovascular resistance

EGF

Epidermal growth factor

MCAo

Middle cerebral artery occlusion

N3KO

Notch3 knockout

Notch3ECD

Notch3 extracellular domain

NOTCH3ICD

Notch3 intracellular domain

PID

Peri-infarct depolarization

SD

Spreading depression

SVD

Small vessel disease

WT

Wild type

Notes

Acknowledgements

 This work was supported by the National Institutes of Health (NS055104, NS061505, NS33335), Leducq Foundation (2012D000293), Neuroendovascular Research Fund from the Andrew David Heitman Foundation, and The Ellison Foundation.

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Francesco Blasi
    • 1
  • Anand Viswanathan
    • 2
  • Cenk Ayata
    • 3
    • 4
  1. 1.Neurovascular Research Laboratory, Department of RadiologyMassachusetts General Hospital, Harvard Medical SchoolCharlestownUSA
  2. 2.Stroke Research CenterMassachusetts General HospitalBostonUSA
  3. 3.Neurovascular Research Laboratory, Department of RadiologyMassachusetts General HospitalCharlestownUSA
  4. 4.Stroke Service and Neuroscience Intensive Care Unit, Department of NeurologyMassachusetts General Hospital, Harvard Medical SchoolBostonUSA

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