亨廷顿病多维度神经心理学评估的随访研究

Multidimensional Neuropsychological Scale Assessment of ThreeFamilies with Huntington's Disease:a 3-year Follow-up Study

目的本研究旨在通过对3个家系的亨廷顿病(Huntington's disease,HD)患者进行多维度神经心理学评估,前瞻性的研究HD患者认知功能损害的进展。方法8名来自3个家系的HD患者和8名与其性别、年龄、种族匹配的健康对照者纳入本研究,并进行3年随访观察。通过多维度认知功能评定量表来评估参与者的认知功能。使用PCR-毛细管电泳检测IT15基因的CAG重复次数。结果共有来自3个家系的8名成员参与了HTT基因检测,确诊HD患者5例,其中2例为症状前期患者。3名患者通过阳性家族史、舞蹈样不自主动作、认知功能损害和精神行为异常进行临床诊断。HD患者在以下认知功能测试中的表现为进展性恶化:蒙特利尔认知评估(MoCA)、AVLT(听觉语言学习测试)回忆、VFT-F(语言流畅性测试-水果)、VFT-动物、RCFT(Rey复杂图形测试)、DST(数字跨度测试)、Stroop C、Stroop干扰效应(SIE)、CTT-B(颜色轨迹测试B)。HD组认知障碍存在两个峰值,主要集中在执行功能维度的认知领域。3年后的随访评估分析显示HD患者认知障碍呈恶化趋势,但只有AVLT、Stroop-C和SIE测试结果有统计学差异。结论多维神经心理学评估显示HD患者存在多个认知领域损害,其中执行功能是最显着的认知受损领域,其他认知领域如记忆、语言、视觉空间结构、注意力等也有不同程度的损害。评估HD患者认知功能障碍的纵向衰减对追踪疾病进展具有重要的临床和科学研究意义。

Objective The purpose of this study was to prospectively investigate the progression of cognitive impairment in three families of Huntington's disease(HD)patients by conducting a multidimensional neuropsychological assessment.Methods Eight patients with HD from three families and eight healthy controls matching their sex,age,and ethnicity were included in the study and followed up for 3 years.The cognitive function of the participants was assessed by the multidimensional cognitive function Rating Scale.The number of CAG repeats of IT15 gene was detected by PCR-capillary electrophoresis.Results A total of 8 members from 3 families participated in HTT gene testing,and 5 patients with HD were confirmed,of which 2 were presymptomatic patients.Three patients were clinically diagnosed by positive family history,dance-like involuntary movements,cognitive impairment and psychobehavioral abnormalities.Patients with HD showed progressive deterioration on the following cognitive function tests-Montreal Cognitive Assessment(MoCA),AVLT(Auditory Language Learning Test)recall,VFT-F(Verbal Fluency Test-Fruit),VFT-Animal,RCFT(Rey Complex Graphics Test),DST(Digital Span Test),Stroop C,Stroop Interference Effect(SIE)and CTT-B(Color Trajectory Test B).There were two peaks of cognitive impairment in HD group,mainly concentrated in the cognitive field of executive function dimension.Analysis of 3-year follow-up revealed a worsening trend in cognitive impairment in HD patients,but AVLT,Stroop-C and SIE were statistically different only.Conclusions Multi-dimensional neuropsychological evaluation reveals that HD patients have impairments of multiple cognitive areas,among which executive function is the most significant area of cognitive impairment,and other cognitive areas such as memory,language,visuospatial structure,attention,etc.,have varying degrees of impairment too.Assessing the longitudinal decline of cognitive dysfunction in HD patients has important clinical and scientific significance for tracking disease progression.