摘要：

目的 探讨遗传性脑小血管病患者认知功能变化及临床特点。方法 选择2015年1月至2018年1月收治的8例单基因遗传性脑小血管病患者的相关临床资料、影像学和神经心理学评分结果，分析其在首诊、随访6及12个月时的认知功能变化特点。结果 8例患者中6例符合常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病（CADASIL）诊断、2例符合常染色体隐性遗传性脑动脉病伴皮质下梗死和白质脑病（CARASIL）标准。CADASIL患者主要表现为急性脑梗死（2例）、头晕头痛（1例）、认 知功能障碍（3例）；CARASIL患者分别以头晕（1例）或认知功能障碍（1例）首诊；头部MRI显示不同部位、不同程度皮质下白质损害。其中， 3例日常生活活动能力下降、 4例存在不同程度神经精神行为异常、 1例可能有焦虑并伴轻度抑郁。6个月随访时，所有患者均出现不同程度神经精神行为异常。 CADASIL患者主要表现为延迟回忆、视空间能力与执行功能、抽象能力、语言功能、注意力和计算力受损，伴随易激惹、情感淡漠、激越、异常运动行为等神经精神行为障碍；CARASIL患者则以执行功能、定向力（时间、地点）、近记忆力受损更显著，除易激惹、情感淡漠、激越、异常运动行为外，还存在妄想、脱抑制和睡眠障碍。结论 CADASIL和CARASIL患者的认知功能障碍进展及变化特点各异，其个体之间存在差异性。

关键词: 大脑小血管疾病, CADASIL, 认知障碍, 神经心理学测验

Abstract:

Objective To discuss the cognitive function and the clinical characteristics of hereditary cerebral small vessel disease (cSVD). Methods Clinical data,imaging and neuropsychological score of 8 patients with monogenic hereditary cSVD were included from January 2015 to January 2018. The cognitive characteristics of the patients were analyzed during the first diagnosis,follow-up for 6-month and 12-month. Results Among 8 patients, 6 patients met the diagnostic criteria of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) and 2 patients met the diagnostic criteria of cerebral autosomal recessive arteriopathy with subcortical infarct and leukoencephalopathy (CARASIL). The main manifestations of CADASIL patients were acute cerebral infarction (2 cases), dizziness and headache (1 case) and cognitive impairment (3 cases), and CARASIL patients showed dizziness (1 case) or cognitive impairment (1 case) during the first diagnosis. Head MRI showed subcortical white matter lesions in different parts and degrees. Three patients had decreased activity of daily living and four patients had different degrees of neuropsychiatric and behavioral disorders, one case might have anxiety and mild depression. All patients had different degrees of neuropsychiatric and behavioral disorders at 6-month follow-up. Patients with CADASIL suffered from impairment of delayed recall, visuospatial and executive function, abstract ability, language, attention and computational ability, as well as neuropsychiatric behavior disorders such as irritability, emotional apathy, agitation and abnormal motor behavior. Patients with CARASIL suffered from impairment of executive function, orientation (time, place) and short term memory. In addition to irritability, apathy, agitation and abnormal motor behavior, there were delusions, depression and sleep disorders. Conclusions The progress and changes of cognitive function in patients with CARASIL and CADASIL have different characteristics, and there are differences among individuals.

Key words: Cerebral small vessel diseases, CADASIL, Cognition disorders, Neuropsychological tests