4例NOTCH3基因突变的遗传性脑小血管病患者临床及认知特点

目的对4例NOTCH3基因突变的遗传性脑小血管病患者的临床及认知特点进行分析比较。方法回顾性收集2015年5月-2017年9月天津市环湖医院神经内科收治的4例NOTCH3基因突变的遗传性脑小血管病患者的临床资料,分析其首发症状、临床表现、影像学检查、辅助检查、基因检测及相关神经心理学评估等方面的特点。结果 4例NOTCH3基因突变的患者中2例以急性缺血性卒中,1例以认知功能障碍,1例以头晕头痛就诊,其中1例患者除了有急性卒中症状外还伴有家族性秃头和腰痛。4例患者中2例伴有脑血管病危险因素。4例患者头颅MRI均可见不同程度皮质下脑白质损害,但部位不完全相同。4例患者基因检测分别在19号染色体NOTCH3基因3号,4号,20号,11号外显子发生杂合突变。4例患者神经心理学评估均提示存在认知功能障碍,主要在执行功能、语言、抽象能力及延迟回忆方面分值降低,而在定向力、计算力、命名、注意力等方面降低不明显。结论 NOTCH3基因突变的遗传性脑小血管病患者在临床特征方面有各自不同的特点,个体间存在异质性。

Clinical and Cognitive Features of Four Patients with Hereditary Cerebral Small Vessel Disease Caused by Notch3 Gene Mutation

Objective To analyze and compare the clinical and cognitive features of four patients with
hereditary cerebral small vessel disease (CSVD) caused by Notch3 gene mutation.
Methods The clinical data of four hereditary CSVD patients with Notch3 gene mutation were
collected. Initial symptom, clinical manifestation, imaging feature, auxiliary examinations, gene
detection and neuropsychological assessment were analyzed and compared.
Results For reasons of seeing a doctor, two patients were acute stroke, one was cognitive impairment
and the other one was dizziness and headache. One acute stroke patient also had familial alopecia and
lumbago. Two patients had risk factors of cerebrovascular disease. Magnetic resonance imaging of four
patients all showed white matter lesions in different degree and not in the same location. NOTCH3
gene mutation of four patients located at exon 3, 4, 20 and 11, respectively. Neuropsychological
assessment suggested they all had cognitive impairment, and the evaluation results showed an obvious
decline in executive function, language, abstract thinking and delayed memory, but not obvious
change in orientation, calculation, naming, attention and etc.
Conclusion Hereditary CSVD patients caused by Notch3 gene mutation have different clinical
features, which have heterogeneity among these individuals.