Achenbach Jannis, Faissner Simon, Saft Carsten
Department of Neurology, Huntington Center North Rhine-Westphalia, Ruhr-University Bochum, St. Josef-Hospital Bochum, Gudrunstraße 56, 44791 Bochum, Germany.
Brain Sci. 2021 May 27;11(6):710. doi: 10.3390/brainsci11060710.
There is a broad range of potential differential diagnoses for chorea. Besides rare, inherited neurodegenerative diseases such as Huntington's disease (HD) chorea can accompany basal ganglia disorders due to vasculitis or infections, e.g., with the human immunodeficiency virus (HIV). The clinical picture is complicated by the rare occurrence of HIV infection and HD.
First, we present a case suffering simultaneously from HIV and HD (HIV/HD) focusing on clinical manifestation and disease onset. We investigated cross-sectional data regarding molecular genetic, motoric, cognitive, functional, and psychiatric disease manifestation of HIV/HD in comparison to motor-manifest HD patients without HIV infection (nonHIV/HD) in the largest cohort of HD patients worldwide using the registry study ENROLL-HD. Data were analyzed using ANCOVA analyses controlling for covariates of age and CAG repeat length between groups in IBM SPSS Statistics V.25.
The HD diagnosis in our case report was delayed by approximately nine years due to the false assumption that the HIV infection might have been the cause of chorea. Out of = 21,116 participants in ENROLL-HD, we identified = 10,125 motor-manifest HD patients. = 23 male participants were classified as suffering from HIV infection as a comorbidity, compared to = 4898 male non-HIV/HD patients. Except for age, with HIV/HD being significantly younger ( < 0.050), we observed no group differences regarding sociodemographic, genetic, educational, motoric, functional, and cognitive parameters. Male HIV/HD patients reported about a 5.3-year-earlier onset of HD symptoms noticed by themselves compared to non-HIV/HD ( < 0.050). Moreover, patients in the HIV/HD group had a longer diagnostic delay of 1.8 years between onset of symptoms and HD diagnosis and a longer time regarding assessment of first symptoms by the rater and judgement of the patient (all < 0.050). Unexpectedly, HIV/HD patients showed less irritability in the Hospital Anxiety and Depression Scale (all < 0.05).
The HD diagnosis in HIV-infected male patients is secured with a diagnostic delay between first symptoms noticed by the patient and final diagnosis. Treating physicians therefore should be sensitized to think of potential alternative diagnoses in HIV-infected patients also afflicted by movement disorders, especially if there is evidence of subcortical atrophy and a history of hyperkinesia, even without a clear HD-family history. Those patients should be transferred for early genetic testing to avoid further unnecessary diagnostics and improve sociomedical care.
舞蹈症存在广泛的潜在鉴别诊断。除了罕见的遗传性神经退行性疾病，如亨廷顿舞蹈症（HD），舞蹈症还可能伴随因血管炎或感染（如人类免疫缺陷病毒（HIV）感染）导致的基底神经节疾病。HIV感染和HD同时发生的情况较为罕见，这使得临床表现变得复杂。
首先，我们报告一例同时患有HIV和HD（HIV/HD）的病例，重点关注其临床表现和疾病发作情况。我们使用登记研究ENROLL-HD，在全球最大的HD患者队列中，调查了HIV/HD与未感染HIV的运动性HD患者（非HIV/HD）在分子遗传学、运动、认知、功能和精神疾病表现方面的横断面数据。在IBM SPSS Statistics V.25中，使用协方差分析（ANCOVA）对年龄和CAG重复长度的协变量进行控制，分析两组之间的数据。
在我们的病例报告中，HD的诊断被推迟了约九年，原因是错误地认为HIV感染可能是舞蹈症的病因。在ENROLL-HD的21116名参与者中，我们确定了10125名有运动表现的HD患者。23名男性参与者被归类为合并HIV感染，而男性非HIV/HD患者有4898名。除了年龄，HIV/HD患者明显更年轻（P<0.050），在社会人口统计学、遗传学、教育、运动、功能和认知参数方面，我们未观察到组间差异。与非HIV/HD患者相比，男性HIV/HD患者报告自己注意到HD症状的发病时间提前了约5.3年（P<0.050）。此外，HIV/HD组患者从症状发作到HD诊断的诊断延迟更长，为1.8年，评估者评估首次症状和患者判断的时间也更长（均P<0.050）。出乎意料的是，HIV/HD患者在医院焦虑抑郁量表上的易怒情绪较少（均P<0.05）。
HIV感染男性患者的HD诊断存在延迟，从患者注意到首次症状到最终诊断。因此，治疗医生应提高警惕，对于同时患有运动障碍的HIV感染患者，尤其是有皮质下萎缩证据和运动亢进病史的患者，即使没有明确的HD家族史，也应考虑潜在的其他诊断。这些患者应尽早转诊进行基因检测，以避免进一步不必要的诊断，并改善社会医疗护理。
