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Article

Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review.

World neurosurgery - 1 Nov 2020

Yu Zhaoping, Cao Shugang, Wu Aimei, Yue Hong, Zhang Chi, Wang Juan, Xia Mingwu, Wu Juncang

Abstract excerpt

BACKGROUND: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an extremely rare monogenic autosomal disease associated with the HtrA serine protease 1 (HTRA 1) gene mutation. Recently, a few genetically confirmed CARASIL cases with novel HTRA1 mutations have been reported in countries other than Japan. CASE DESCRIPTION: Here, we report a case of a patient...

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Identifiers

PMID: 32445900
DOI: 10.1016/j.wneu.2020.05.128

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