额颞叶变性的临床及生物学标记物特点

摘要

目的 探讨额颞叶变性(FTLD)患者的临床、影像以及生物学标记物的特点.方法 回顾性分析入组的43例FTLD患者的临床资料,包括一般资料、临床特点、行为-认知量表评分〔如蒙特利尔认知评估量表(MoCA)、简易精神状态检查量表(MMSE)、日常活动能力量表(ADL)、额叶行为量表(FBI)、神经精神量表(NPI)和汉密尔顿抑郁量表(HAMD)评分〕、头MRI、血APOEε4、尿液Alzheimer相关神经丝蛋白(AD7c-NTP)以及FDG-PET检查结果 .结果FTLD患者早期主要表现为执行功能障碍、行为去抑制;头颅MRI检查结果表现为单/双侧对称(或)不对称性额颞叶萎缩,可伴或不伴海马萎缩;FDG-PET检查结果显示大脑半球前部对称/不对称性葡萄糖低代谢改变;FTLD患者APOEε4等位基因的表达频率为15.12%,尿液AD7c-NTP平均值(3.23±1.78)ng/mL,高于正常值范围(0~1.5 ng/mL);P300波的潜伏期不同程度延长,波幅均降低.结论FTLD患者早期临床表现以行为、执行功能障碍多见,也可出现记忆障碍.行为-认知量表和FDG-PET检查可能有助于FTLD诊断.FTLD患者P300波的潜伏期和波幅也可出现变化,可能有助于发现患者记忆、推理功能障碍.FTLD患者也可以出现APOEε4等位基因表达以及尿AD7c-NTP表达的变化.%Objective To describe the clinical, neuroimaging and biological markers' profiles of frontotemporal lobar degeneration (FTLD). Methods Forty-three patients with FTLD were retrospectively evaluated by the clinical data,including general data,clinical features,neuropsychological scale scores,APOEε4, AD7c-NTP,MRI and PET-CT. Results The main manifestations of early stage were executive function deficits and behavioral disinhibition. MRI revealed symmetrical or asymmetrical atrophy of the frontal and/or temporal lobes,and the atrophy of hippocampus was also demonstrated. FDG-PET showed symmetrical or asymmetrical glucose metabolism decrease in the anterior hemisphere. The APOEε4 frequency was 15.12%,the urine AD7c-NTP level was (3.23 ± 1.78 )ng/ml,which was higher than the normal range. P300 period in FTLD patients showed different degrees of latency extension and amplitude decrease. Conclusions The early symptoms of FTLD patients are mostly behavioral disinhibition and executive function deficits,memory disorders can also appear. Cognitive behavioral scales and FDG-PET examination maybe helpful for FTLD diagnosis. The incubation and amplitude of P300 wave can also change in FTLD patients,which may help to identify patients with memory dysfunction. Patients with FTLD can express APOEε4 allele and also had higher AD7c-NTP in urine.