摘要
HTRA丝氨酸肽酶1(HTRA1)基因突变可导致常染色体隐性遗传性脑动脉病伴皮质下梗死和白质脑病以及HTRA1相关显性遗传性脑小血管病(CSVD)。文中对HTRA1相关CSVD的定义、临床特征、MRI表现、基因和病理检查以及治疗方案进行了描述,归纳总结了该类疾病的临床特点,强调HTRA1相关CSVD与其他脑白质病变之间的区别,提出了在常规临床环境下识别HTRA1相关CSVD的诊断途径。除常规CSVD治疗外,该病的靶向治疗方法尚需建立。
The high-temperature requirement A serine peptidase 1(HTRA1)gene mutation results in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy and autosomal dominant cerebral small vessel disease(CSVD).This article described the definition,clinical features,magnetic resonance imaging manifestations,genetic and pathological examinations and treatment plans of HTRA1 related CSVD and highlighted the distinction between HTRA1 related CSVD and other inherited disorders with white matter involvement,and proposed a diagnostic pathway for timely recognition of HTRA1 related CSVD in a routine clinical environment.Ultimately,in addition to the conventional treatment of CSVD,effective targeted treatment methods still need to be established.
作者
郭昱
袁云
Guo Yu;Yuan Yun(Department of Neurology,Peking University First Hospital,Beijing 100034,China;Department of Neurology,Peking University First Hospital,Beijing Key Laboratory of Neurovascular Disease Discovery,Beijing 100034,China)
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2022年第8期903-908,共6页
Chinese Journal of Neurology
基金
科技部国家重点研发计划(2016YFC1300605)
国家自然科学基金(81471185)。
关键词
脑小血管病
HTRA1丝氨酸肽酶1
隐性遗传性脑动脉病伴皮质下梗死和白质脑病
Cerebral small vessel disease
High-temperature requirement A serine peptidase 1
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
