Department of Translation and Language Sciences, Universitat Pompeu Fabra, Barcelona, Spain.
LIMSI, CNRS, Université Paris-Saclay, Orsay, France.
J Commun Disord. 2020 Jan-Feb;83:105970. doi: 10.1016/j.jcomdis.2019.105970. Epub 2019 Dec 5.
Huntington's disease (HD) is a neurodegenerative disease causing motor symptoms along with cognitive and affective problems. Recent evidence suggests that HD also affects language across core levels of linguistic organization, including at stages of the disease when standardized neuropsychological test profiles are still normal and motor symptoms do not yet reach clinical thresholds ('pre-manifest HD'). The present study aimed to subject spontaneous speech to a more fine-grained linguistic analysis in a sample of 20 identified HD gene-carriers, 10 with pre-manifest and 10 with early manifest HD. We further explored how language performance related to non-linguistic cognitive impairment, using standardized neuropsychological measures. A distinctive pattern of linguistic impairments marked off participants with both pre-manifest and manifest HD from healthy controls and each other. Fluency patterns in premanifest HD were marked by prolongations, filled pauses, and repetitions, which shifted to a pattern marked by empty (unfilled) pauses, re-phrasings, and truncations in manifest HD. Both HD groups also significantly differed from controls and each other in how they grammatically connected clauses and used noun phrases referentially. Functional deficits in language occurred in pre-manifest HD in the absence of any non-linguistic neuropsychological impairment and did largely not correlate with standardized neuropsychological measures in manifest HD. These results further corroborate that language can act as a fine-grained clinical marker in HD, which can track disease progression from the pre-manifest stage, define critical remediation targets, and inform the role of the basal ganglia in language processing.
亨廷顿病（HD）是一种神经退行性疾病，除了运动症状外，还会引起认知和情感问题。最近的证据表明，HD 还会影响语言的核心组织层次，包括在疾病的阶段，当标准化神经心理学测试特征仍然正常，运动症状尚未达到临床阈值时（“前显型 HD”）。本研究旨在对 20 名确定的 HD 基因携带者的样本进行更精细的语言分析，其中 10 名具有前显型和 10 名具有早期显型 HD。我们进一步探讨了语言表现与非语言认知障碍的关系，使用了标准化的神经心理学测试。一种独特的语言障碍模式将具有前显型和显型 HD 的参与者与健康对照组区分开来，也将彼此区分开来。在显型 HD 中，流畅度模式的特点是延长、填充停顿和重复，而在显型 HD 中则转变为以空（未填充）停顿、重新措辞和截断为特征的模式。前显型 HD 和显型 HD 两组与对照组和彼此之间在如何语法连接从句和参照性使用名词短语方面也存在显著差异。前显型 HD 中的语言功能缺陷在没有任何非语言神经心理学损伤的情况下发生，并且在显型 HD 中与标准化神经心理学测试的相关性不大。这些结果进一步证实，语言可以作为 HD 中的一个精细的临床标志物，可以从前显型阶段跟踪疾病进展，定义关键的修复目标，并为基底神经节在语言处理中的作用提供信息。
