Nguyen Quang Tuan Rémy, Ortigoza Escobar Juan Dario, Burgunder Jean-Marc, Mariotti Caterina, Saft Carsten, Hjermind Lena Elisabeth, Youssov Katia, Landwehrmeyer G Bernhard, Bachoud-Lévi Anne-Catherine
AP-HP, Hôpital Henri Mondor-Albert Chenevier, Centre National de Référence Maladie de Huntington, Service de Neurologie, Créteil, France.
Univ Paris Est Creteil, INSERM U955, Institut Mondor de Recherche Biomédicale, Laboratoire de Neuropsychologie Interventionnelle, Creteil, France.
Front Neurol. 2022 Feb 10;13:817753. doi: 10.3389/fneur.2022.817753. eCollection 2022.
One percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their diagnosis is still a challenge. Our objective is to provide a diagnostic approach to HD phenocopies based on medical expertise and a review of the literature. We employed two complementary approaches sequentially: a review of the literature and two surveys analyzing the daily clinical practice of physicians who are experts in movement disorders. The review of the literature was conducted from 1993 to 2020, by extracting articles about chorea or HD-like disorders from the database Pubmed, yielding 51 articles, and analyzing 20 articles in depth to establish the surveys. Twenty-eight physicians responded to the first survey exploring the red flags suggestive of specific disease entities. Thirty-three physicians completed the second survey which asked for the classification of paraclinical tests according to their diagnostic significance. The analysis of the results of the second survey used four different clustering algorithms and the density-based clustering algorithm DBSCAN to classify the paraclinical tests into 1st, 2nd, and 3rd-line recommendations. In addition, we included suggestions from members of the European Reference Network-Rare Neurological Diseases (ERN-RND Chorea & Huntington disease group). Finally, we propose guidance that integrate the detection of clinical red flags with a classification of paraclinical testing options to improve the diagnosis of HD phenocopies.
1%表现出亨廷顿舞蹈症（HD）表型的患者没有亨廷顿（HTT）基因突变。这些被称为HD拟表型。对它们的诊断仍然是一项挑战。我们的目标是基于医学专业知识并通过文献综述提供一种针对HD拟表型的诊断方法。我们依次采用了两种互补方法：文献综述以及两项针对运动障碍专家日常临床实践的调查。文献综述在1993年至2020年期间进行，通过从数据库PubMed中提取关于舞蹈症或HD样疾病的文章，共获得51篇文章，并深入分析其中20篇文章以制定调查。28名医生回复了第一项探索提示特定疾病实体的危险信号的调查。33名医生完成了第二项调查，该调查要求根据其诊断意义对辅助临床检查进行分类。对第二项调查结果的分析使用了四种不同的聚类算法以及基于密度的聚类算法DBSCAN，将辅助临床检查分为一线、二线和三线推荐。此外，我们纳入了欧洲罕见神经疾病参考网络（ERN - RND舞蹈症与亨廷顿病组）成员的建议。最后，我们提出将临床危险信号的检测与辅助临床检查选项分类相结合的指导意见，以改善HD拟表型的诊断。
