Cheng Yangfan, Gu Xiaojing, Liu Kuncheng, Yang Tianmi, Xiao Yi, Jiang Qirui, Huang Jingxuan, Lin Junyu, Wei Qianqian, Ou Ruwei, Hou Yanbing, Zhang Lingyu, Li Chunyu, Burgunder Jean-Marc, Shang Huifang
Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, Chengdu 610041, China.
Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatric, West China Hospital, Sichuan University, Chengdu 610041, China.
J Clin Med. 2022 Dec 27;12(1):206. doi: 10.3390/jcm12010206.
Huntington’s disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. There is a paucity of comprehensive clinical analysis in Chinese HD patients due to the low prevalence of HD in Asia. We aimed to comprehensively describe the motor, neuropsychiatric symptoms, and functional assessment in patients with HD from China. A total of 205 HD patients were assessed by the Unified Huntington’s Disease Rating Scale (UHDRS), the short version of Problem-Behavior Assessment (PBA-s), Hamilton Depression Scale (HAMD) and Beck Depression Inventory (BDI). Multivariate logistic regression analysis was used to explore the independent variables correlated with neuropsychiatric subscales. The mean age of motor symptom onset was 41.8 ± 10.0 years old with a diagnostic delay of 4.3 ± 3.8 years and a median CAG repeats of 44. The patients with a positive family history had a younger onset and larger CAG expansion than the patients without a family history (p < 0.05). There was a significant increase in total motor score across disease stages (p < 0.0001). Depression (51%) was the most common neuropsychiatric symptom at all stages, whereas moderate to severe apathy commonly occurred in advanced HD stages. We found lower functional capacity and higher HAMD were independently correlated with irritability; higher HAMD and higher BDI were independently correlated with affect; male sex and higher HAMD were independently correlated with apathy. In summary, comprehensive clinical profile analysis of Chinese HD patients showed not only chorea-like movement, but psychiatric symptoms were outstanding problems and need to be detected early. Our study provides the basis to guide clinical practice, especially in practical diagnostic and management processes.
亨廷顿舞蹈症(HD)是一种由CAG重复序列扩增引起的常染色体显性遗传神经退行性疾病。由于HD在亚洲的患病率较低,针对中国HD患者的全面临床分析较少。我们旨在全面描述中国HD患者的运动、神经精神症状及功能评估情况。共有205例HD患者接受了统一亨廷顿舞蹈症评定量表(UHDRS)、问题行为评估简版(PBA-s)、汉密尔顿抑郁量表(HAMD)和贝克抑郁量表(BDI)的评估。采用多因素逻辑回归分析来探究与神经精神亚量表相关的独立变量。运动症状出现的平均年龄为41.8±10.0岁,诊断延迟为4.3±3.8年,CAG重复序列的中位数为44。有家族史的患者比无家族史的患者发病年龄更小,CAG扩增更大(p<0.05)。疾病各阶段的运动总分均显著增加(p<0.0001)。抑郁(51%)是各阶段最常见的神经精神症状,而中重度冷漠在HD晚期较为常见。我们发现,功能能力较低和HAMD得分较高与易怒独立相关;HAMD得分较高和BDI得分较高与情感独立相关;男性及HAMD得分较高与冷漠独立相关。总之,对中国HD患者的全面临床特征分析表明,不仅舞蹈样运动,精神症状也是突出问题,需要早期检测。我们的研究为指导临床实践提供了依据,尤其是在实际诊断和管理过程中。