HTRA丝氨酸肽酶1基因杂合突变致相关脑小血管病一家系报道

A family report of cerebral small vessel disease caused by heterozygous mutation of HTRA serine peptidase 1 gene

HTRA丝氨酸肽酶1(HTRA1)相关脑小血管病(CSVD)较罕见,尽早诊断和治疗可改善预后。作者报道南昌大学第二附属医院神经内科收治的1例37岁、男性患者,以一过性右侧肢体无力为首发症状,影像学提示脑白质病变,基因检测显示HTRA1(c.854 C>T/p.Pro285Leu)杂合突变,最终诊断为HTRA1相关CSVD。对其家系成员进行调查,其特点为:罹患缺血性脑血管病,伴颈椎、腰椎间盘突出,男性患者伴脱发,部分患者存在认知功能障碍,男性比女性发病年龄早,发病年龄逐代提前。因此,对于青年缺血性脑血管病伴随脱发、认知功能障碍、颈椎或腰椎间盘突出,影像学提示明显脑白质病变,尤其不伴有常见脑血管病危险因素的患者,应追问家族史,并进行基因检测筛查HTRA1基因突变位点。

Cases of high-temperature requirement A serine peptidase 1(HTRA1)gene heterozygous mutation associated cerebral small vessel disease are relatively rare.Early and timely diagnosis and treatment can improve prognosis.The authors reported a 37 years old male patient admitted in Department of Neurology,the Second Affiliated Hospital of Nanchang University,whose initial symptom was transient right limb weakness,imaging suggested white matter lesions and the gene screening showed HTRA1(c.854 C>T/p.Pro285Leu)heterozygous mutation.A family survey has been conducted and the characteristics of patients in this family are as follows:they present with ischemic cerebrovascular disease,coexist with cervical or lumbar disc herniation,male patients have hair loss,some patients have cognitive dysfunction,men tend to develop the disease at an earlier age than women,and the onset age is progressively earlier from generation to generation.Therefore,for young ischemic cerebrovascular disease patients with hair loss,cognitive dysfunction,cervical or lumbar disc herniation,and obvious white matter lesions on imaging,especially those without common risk factors for cerebrovascular disease,a family history should be inquired and genetic testing should be performed to screen for HTRA1 mutations.