Internal medicine

Radiology

Pathology

Hyperintensity

Notch signaling pathway

Neuroscience

Receptor

Vascular dementia

Leukoencephalopathy

Disease

Dementia

Pathogenesis

Bioinformatics

Biology

Gene

Magnetic resonance imaging

CADASIL

Mutation

White matter

Missense mutation

Genetics

Medicine

Frontiers in Aging Neuroscience

CADASIL, a hereditary, cerebral small-vessel disease caused by mutations in NOTCH3, is characterized by recurrent cerebral ischemic events without vascular risk factors, mood disturbances, and dementia. MRI imaging shows cerebral white matter hyperintensity, particularly in the external capsule and temporal pole. Missense mutations related to cysteine residue in one of the 34 EGFr in the NOTCH3 receptor are typical mutation of CADASIL. On the other hand, atypical mutations including cysteine sparing mutation, homozygous mutation and other associate genes are also reported. From the view point of gain of function apart from Notch signaling or loss of function of Notch signaling, we review the research article about CADASIL and summarized the pathogenesis of small vessel, stroke and dementia in this disease.

Clinical and Genetic Aspects of CADASIL