Schumann-Werner Beate, Dogan Imis, Mirzazade Shahram, Mall Bettina, Overbeck Rena, Honrath Philipp, Schulz Jörg B, Reetz Kathrin, Werner Cornelius J
Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Department of Neurology, Medical Faculty, Euregional Huntington Centre Aachen, RWTH Aachen University, Aachen, Germany.
Eur J Neurol. 2021 Sep;28(9):2855-2862. doi: 10.1111/ene.14953. Epub 2021 Jun 24.
Dysphagia is one of the most common and important complications in Huntington disease (HD), frequently leading to aspiration pneumonia and mortality. Objective estimates of prevalence using instrumental diagnostics and data on neural correlates of dysphagia in HD are scarce or lacking entirely. Similarly, its correlation with other clinical markers is still not fully known. We aimed at defining clinical risk factors and neural correlates for compromised swallowing safety in HD more precisely.
Thirty-four HD subjects (16 female, Shoulson & Fahn Stage I-IV, two premanifest) underwent a full clinical-neurological examination including the cranial nerves, the Unified Huntington's Disease Rating Scale total motor score, and the Mini-Mental State Examination. Fiberoptic endoscopic evaluation of swallowing (FEES) was performed by a trained speech and language therapist. Twenty-six subjects additionally underwent a high-resolution anatomical magnetic resonance imaging (MRI) scan (T1, 3-T Siemens Prisma). Moreover, we correlated clinical and atrophy (MRI) measures with swallowing safety levels as judged by the validated Penetration-Aspiration Scale.
FEES showed penetration or aspiration in 70.6%. Using partial correlation, no significant correlations were found between swallowing safety and any of the clinical markers after correcting for disease duration and CAG repeat length. Voxel-based morphometry demonstrated atrophy associated with compromised swallowing safety in a network of parietothalamocerebellar areas related to sensorimotor communication, notably excluding striatum.
Our results characterise dysphagia in HD as a disorder of communication between sensory and motor networks involved in swallowing. This finding and high rates of silent aspiration argue in favor of instrumental swallowing evaluation early in the disease.
吞咽困难是亨廷顿病（HD）最常见且重要的并发症之一，常导致吸入性肺炎和死亡。使用仪器诊断对HD吞咽困难患病率进行客观估计以及关于其神经关联的数据稀缺或完全缺乏。同样，其与其他临床标志物的相关性仍未完全明确。我们旨在更精确地确定HD吞咽安全受损的临床危险因素和神经关联。
34名HD受试者（16名女性，舒尔森-法恩I-IV期，2名症状前患者）接受了全面的临床神经学检查，包括颅神经、统一亨廷顿病评定量表总运动评分和简易精神状态检查。由训练有素的言语和语言治疗师进行纤维内镜吞咽评估（FEES）。另外26名受试者接受了高分辨率解剖磁共振成像（MRI）扫描（T1，3-T西门子Prisma）。此外，我们将临床和萎缩（MRI）测量结果与经验证的渗透-误吸量表判断的吞咽安全水平进行了关联。
FEES显示70.6%的患者存在渗透或误吸。使用偏相关分析，在校正病程和CAG重复长度后，未发现吞咽安全与任何临床标志物之间存在显著相关性。基于体素的形态学分析显示，在与感觉运动沟通相关的顶叶-丘脑-小脑区域网络中存在与吞咽安全受损相关的萎缩，显著排除纹状体。
我们的结果表明，HD中的吞咽困难是一种涉及吞咽的感觉和运动网络之间沟通障碍的疾病。这一发现以及高比例的无症状误吸支持在疾病早期进行仪器吞咽评估。
