A case of cerebral small vessel disease related to a missense mutation in NOTCH3 with clinical manifestations of alopecia and lumbago

VernacularTitle:临床表现为脱发、腰痛的NOTCH3基因突变合并ABCC6基因突变的脑小血管病1例
Author: Yuan CHEN ¹ ; Yuying ZHOU ; Pan LI
Author Information

1. 天津市环湖医院神经内科，天津　300350
Keywords: Cerebral small vessel disease; NOCTH3 gene; ABCC6 gene
From: Clinical Medicine of China 2024;40(3):186-190
CountryChina
Language:Chinese
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cerebral autosomal dominant arteriopathy with subcortical infarcts and Leukoencephalopathy (CADASIL) is the most common inherited cerebral small-vessel disease, which is caused by mutations in the Notch3 gene on chromosome 19. Compared with CADASIL, CARASIL caused by homozygous mutation of high-temperature requirement protease A1 (HTRA1) is a rare single-gene cerebral small vessel disease. A 47-year-old male patient was reported in this paper. The main cause was "cough in drinking water and dysphagia for 28 hours". According to family history and imaging findings, he was considered to be hereditary cerebral small vessel disease, and the clinical manifestations were accompanied by typical symptoms of CARASIL, such as alopecia and low back pain. Gene detection suggested that NOTCH3 gene mutation combined with ABCC6 gene mutation. Through the analysis of the clinical data of this case, it is helpful for clinicians to improve the recognition of hereditary cerebral small vessel disease.