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Article

Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients.

Journal of human genetics - 1 Aug 2020

Mukai Mao, Mizuta Ikuko, Watanabe-Hosomi Akiko, Koizumi Takashi, Matsuura Jun, Hamano Ai, Tomimoto Hidekazu, Mizuno Toshiki

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by NOTCH3, and characterized by recurrent cerebral ischemic events without vascular risk factors, mood disturbance, and dementia. MRI testing shows cerebral white matter hyperintensities, especially in the external capsule and temporal pole. Typical mutations...

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PMID: 32277177
DOI: 10.1038/s10038-020-0751-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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