Department of Otolaryngology-Head and Neck Surgery, Massachusetts Eye and Ear and Harvard Medical School, 243 Charles Street, Suite 421, Boston, MA, 02114, USA.
Program in Speech Hearing Bioscience and Technology, Harvard University, 260 Longwood Avenue, Boston, MA, 02115, USA.
J Neurol. 2023 Apr;270(4):2184-2190. doi: 10.1007/s00415-023-11562-z. Epub 2023 Jan 14.
Abnormal sensory discriminatory processing has been implicated as an endophenotypic marker of isolated dystonia. However, the extent of alterations across the different sensory domains and their commonality in different forms of dystonia are unclear. Based on the previous findings of abnormal temporal but not spatial discrimination in patients with laryngeal dystonia, we investigated sensory processing in the auditory and olfactory domains as potentially additional contributors to the disorder pathophysiology. We tested auditory temporal discrimination and olfactory function, including odor identification, threshold, and discrimination, in 102 laryngeal dystonia patients and 44 healthy controls, using dichotically presented pure tones and the extended Sniffin' Sticks smell test protocol, respectively. Statistical significance was assessed using analysis of variance with non-parametric bootstrapping. Patients had a lower mean auditory temporal discrimination threshold, with abnormal values found in three patients. Hyposmia was found in 64 patients and anosmia in 2 patients. However, there were no statistically significant differences in either auditory temporal discrimination threshold or olfactory identification, threshold, and discrimination between the groups. A significant positive relationship was found between olfactory threshold and disorder severity based on the Burke-Fahn-Marsden dystonia rating scale. Our findings demonstrate that, contrary to altered visual temporal discrimination, auditory temporal discrimination and olfactory function are likely not candidate endophenotypic markers of laryngeal dystonia.
异常的感觉辨别处理被认为是孤立性肌张力障碍的一种内表型标志物。然而,不同感觉领域的改变程度及其在不同形式的肌张力障碍中的共同性尚不清楚。基于先前发现的喉痉挛患者在时间而非空间辨别方面存在异常,我们研究了听觉和嗅觉领域的感觉处理,因为它们可能是该疾病病理生理学的额外贡献者。我们使用双声道呈现的纯音和扩展的 Sniffin' Sticks 嗅觉测试方案,分别在 102 名喉痉挛患者和 44 名健康对照者中测试了听觉时间辨别和嗅觉功能,包括气味识别、阈值和辨别。使用方差分析和非参数引导进行统计显著性评估。患者的平均听觉时间辨别阈值较低,其中 3 名患者的阈值异常。64 名患者嗅觉减退,2 名患者嗅觉丧失。然而,两组之间的听觉时间辨别阈值或嗅觉识别、阈值和辨别均无统计学差异。嗅觉阈值与基于 Burke-Fahn-Marsden 肌张力障碍评分量表的疾病严重程度之间存在显著正相关关系。我们的研究结果表明,与视觉时间辨别异常相反,听觉时间辨别和嗅觉功能不太可能是喉痉挛的候选内表型标志物。