脑小血管病, htral基因, grn基因, cerebral small vessel disease, htral gene, grn gene, Neurology. Diseases of the nervous system, RC346-429

脑小血管病是血管性认知障碍的临床常见病因之一，表现异质性强，其中单基因遗传性脑小血管病是近年来的研究热点。HTRA1基因纯合或复合杂合突变导致的伴皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病是临床罕见的遗传性脑小血管病，研究证实HTRAl基因杂合突变同样具有致病性。本文报道1例以精神行为异常为突出表现的遗传性脑小血管病患者。患者为58岁男性，因“记忆力下降1年，性格改变、行为异常6个月，反应迟缓、定向力下降2个月”就诊。家族中多名一级亲属因脑梗死、痴呆去世。基因检测提示HTRA1基因杂合突变，同时伴GRN基因杂合突变。既往尚缺乏基因相关性报道，患者的临床症状及影像学表现提示可能为两种基因协同作用的结果。 Abstract: Cerebral small vessel disease is one of the common clinical causes of vascular cognitive impairment, showing strong heterogeneity, in which single-gene inherited cerebral small vessel disease has become a research hotspot in recent years. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) caused by homozygous or complex heterozygous mutation of HTRA1 gene is a rare hereditary cerebral small vessel disease. Recent studies have confirmed that HTRAl gene heterozygous mutation is also pathogenic. A case of hereditary cerebral small vessel disease with abnormal mental behavior was reported. The patient was a 58-year-old male. The chief complaint was "memory decline of 1 year, personality changes, behavior abnormalities of 6 months, slow reaction time, and decreased orientation of 2 months". Many first-degree relatives in the family died of cerebral infarction and dementia. Genetic tests suggested heterozygous mutation of HTRA1 gene, accompanied by heterozygous mutation of GRN gene. No gene correlation has been reported in the past, and the clinical symptoms and imaging findings of the patient suggest that it may be the result of the synergistic effect of the two genes.