关键词: 脑小血管病; HTRAl基因; GRN基因

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.

Key words: Cerebral small vessel disease; HTRAl gene; GRN gene