ICREA (Catalan Institution for Research and Advanced Studies), Barcelona, Spain; Department of Translation and Language Sciences, Universitat Pompeu Fabra, Barcelona, Spain; FIDMAG Germanes Hospitalaries Research Foundation, Barcelona, Spain.
Department of Catalan Philology and General Linguistics, Universitat de Barcelona, Barcelona, Spain.
Cortex. 2018 Mar;100:71-83. doi: 10.1016/j.cortex.2017.07.022. Epub 2017 Aug 9.
Cognitive decline accompanying the clinically more salient motor symptoms of Huntington's disease (HD) has been widely noted and can precede motor symptoms onset. Less clear is how such decline bears on language functions in everyday life, though a small number of experimental studies have revealed difficulties with the application of rule-based aspects of language in early stages of the disease. Here we aimed to determine whether there is a systematic linguistic profile that characterizes spontaneous narrative speech in both pre-manifest and/or early manifest HD, and how it is related to striatal degeneration and neuropsychological profiles. Twenty-eight early-stage patients (19 manifest and 9 gene-carriers in the pre-manifest stage), matched with 28 controls, participated in a story-telling task. Speech was blindly scored by independent raters according to fine-grained linguistic variables distributed over 5 domains for which composite scores were computed (Quantitative, Fluency, Reference, Connectivity, and Concordance). Voxel-based morphometry (VBM) was used to link specific brain degeneration patterns to loci of linguistic decline. In all of these domains, significant differences were observed between groups. Deficits in Reference and Connectivity were seen in the pre-manifest stage, where no other neuropsychological impairment was detected. Among HD patients, there was a significant positive correlation only between the values in the Quantitative domain and gray matter volume bilaterally in the putamen and pallidum. These results fill the gap of qualitative data of spontaneous narrative speech in HD and reveal that HD is characterized by systematic linguistic impairments leading to dysfluencies and disorganization in core domains of grammatical organization. This includes the referential use of noun phrases and the embedding of clauses, which mediate crucial dimensions of meaning in language in its normal social use. Moreover, such impairment is seen prior to motor symptoms onset and when standardized neuropsychological test profiles are otherwise normal.
亨廷顿病（HD）的临床症状更为明显的运动症状伴随认知能力下降已被广泛关注，且这种下降可能先于运动症状出现。然而，不太清楚这种下降如何影响日常生活中的语言功能，尽管少数实验研究已经揭示了在疾病的早期阶段，语言的基于规则的方面的应用存在困难。在这里，我们旨在确定是否存在一种系统的语言特征，该特征可以描述在 HD 的前表现期和/或早期表现期的自发性叙事言语，以及它与纹状体变性和神经心理学特征有何关系。28 名早期阶段的患者（19 名表现期患者和 9 名前表现期基因携带者）与 28 名对照者相匹配，参与了讲故事任务。言语由独立的评估者根据分布在 5 个领域的精细语言变量进行盲打分，为每个领域计算了综合评分（定量、流畅性、参照、连通性和一致性）。基于体素的形态计量学（VBM）用于将特定的大脑退行性模式与语言下降的部位联系起来。在所有这些领域中，组间均观察到显著差异。在尚未检测到其他神经心理学损伤的前表现期，参照和连通性方面出现了缺陷。在 HD 患者中，只有定量域的值与双侧壳核和苍白球的灰质体积之间存在显著正相关。这些结果填补了 HD 自发性叙事言语的定性数据空白，并揭示了 HD 的特点是存在系统性的语言障碍，导致语法组织的核心领域出现不流畅和紊乱。这包括名词短语的参照使用和子句的嵌入，这些是语言在正常社交使用中表达关键意义维度的关键。此外，这种损伤在运动症状出现之前就已经出现，而在标准化的神经心理学测试特征正常的情况下也是如此。
