Zielonka Daniel, Witkowski Grzegorz, Puch Elzbieta A, Lesniczak Marta, Mazur-Michalek Iwona, Isalan Mark, Mielcarek Michal
Department of Public Health, Poznan University of Medical Sciences, Poznan, Poland.
First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Front Med (Lausanne). 2020 Mar 11;7:79. doi: 10.3389/fmed.2020.00079. eCollection 2020.
Huntington's disease (HD) is monogenic neurodegenerative disorder caused by CAG expansions within the Huntingtin gene (); it has a prevalence of 1 in 10,000 worldwide and is invariably fatal. Typically, healthy individuals have fewer than 35 CAG repeats, while the CAG expansions range from 36 to ~200 in HD patients. The hallmark of HD is neurodegeneration, especially in the striatal nuclei, basal ganglia and cerebral cortex, leading to neurological symptoms that involve motor, cognitive, and psychiatric events. However, HD is a complex disorder that may also affect peripheral organs, so it is possible that HD patients could be affected by comorbidities. Hence, we investigated the prevalence of comorbid conditions in HD patients (pre-symptomatic and symptomatic groups) and compared the frequency of those conditions to a control group. Our groups represent 65% of HD gene carriers registered in Poland. We identified 8 clusters of comorbid conditions in both HD groups, namely: musculoskeletal, allergies, cardiovascular, neurological, gastrointestinal, thyroid, psychiatric, and ophthalmologic. We found that HD patients have a significantly higher percentage of co-existing conditions in comparison to the control group. Among the 8 clusters of diseases, musculoskeletal, psychiatric, and cardiovascular events were significantly more frequent in both pre- and symptomatic HD patients, while neurological and gastrointestinal clusters showed significantly higher occurrence in the HD symptomatic group. A greater recognition of comorbidity in HD might help to better understand health outcomes and improve clinical management.
亨廷顿舞蹈症（HD）是一种由亨廷顿基因（）内的CAG重复序列扩增引起的单基因神经退行性疾病；在全球范围内，其患病率为万分之一，且无一例外是致命的。通常，健康个体的CAG重复序列少于35个，而HD患者的CAG重复序列扩增范围为36至约200个。HD的标志是神经退行性变，尤其是在纹状体核、基底神经节和大脑皮层，导致涉及运动、认知和精神方面的神经症状。然而，HD是一种复杂的疾病，也可能影响外周器官，因此HD患者可能会受到合并症的影响。因此，我们调查了HD患者（症状前组和症状组）合并症的患病率，并将这些疾病的发生频率与对照组进行了比较。我们的研究组代表了波兰登记的HD基因携带者的65%。我们在两个HD组中确定了8类合并症，即：肌肉骨骼、过敏、心血管、神经、胃肠道、甲状腺、精神和眼科。我们发现，与对照组相比，HD患者共存疾病的百分比显著更高。在这8类疾病中，肌肉骨骼、精神和心血管事件在症状前和症状期HD患者中均显著更频繁，而神经和胃肠道类疾病在HD症状组中的发生率显著更高。对HD合并症的更多认识可能有助于更好地理解健康结果并改善临床管理。
