Paz-Rodríguez F, Chávez-Oliveros M, Bernal-Pérez A, Ochoa-Morales A, Martínez-Ruano L, Camacho-Molina A, Rodríguez-Agudelo Y
Laboratorio de Neuropsicología, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Ciudad de México, México.
Departamento de Genética, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Ciudad de México, México.
Neurologia (Engl Ed). 2021 Jun 2. doi: 10.1016/j.nrl.2021.04.015.
Huntington disease (HD) is a hereditary neurodegenerative disorder. Thanks to predictive diagnosis, incipient clinical characteristics have been described in the prodromal phase.
To compare performance in cognitive tasks of carriers (HDC) and non-carriers (non-HDC) of the huntingtin gene and to analyse the variability in performance as a function of disease burden and proximity to the manifest stage (age of symptom onset).
A sample of 146 participants in a predictive diagnosis of HD programme were divided into the HDC (41.1%) and non-HDC groups (58.9%). Mathematical formulae were used to calculate disease burden and proximity to the manifest stage in the HDC group; these parameters were correlated with neuropsychological performance.
Significant differences were observed between groups in performance on the Mini-Mental State Examination (MMSE), Stroop-B, Symbol-Digit Modalities Test (SDMT), and phonological fluency. In the HDC group, correlations were observed between disease burden and performance on the MMSE, Stroop-B, and SDMT. The group of patients close to the manifest stage scored lowest on the MMSE, Stroop-B, Stroop-C, SDMT, and semantic verbal fluency. According to the multivariate analysis of covariance, the MMSE effect shows statistically significant differences in disease burden and proximity to onset of symptoms.
Members of the HDC group close to the manifest phase performed more poorly on tests assessing information processing speed and attention. Prefrontal cognitive dysfunction appears early, several years before the motor diagnosis of HD.
亨廷顿舞蹈症（HD）是一种遗传性神经退行性疾病。得益于预测性诊断，前驱期的初期临床特征已被描述。
比较亨廷顿基因携带者（HDC）和非携带者（非HDC）在认知任务中的表现，并分析表现的变异性与疾病负担以及与显性阶段（症状发作年龄）接近程度之间的关系。
对146名参与HD预测性诊断项目的参与者进行抽样，分为HDC组（41.1%）和非HDC组（58.9%）。使用数学公式计算HDC组的疾病负担和与显性阶段的接近程度；这些参数与神经心理学表现相关。
两组在简易精神状态检查表（MMSE）、斯特鲁普B、符号数字模式测验（SDMT）和语音流畅性方面的表现存在显著差异。在HDC组中，观察到疾病负担与MMSE、斯特鲁普B和SDMT的表现之间存在相关性。接近显性阶段的患者组在MMSE、斯特鲁普B、斯特鲁普C、SDMT和语义言语流畅性方面得分最低。根据协方差的多变量分析，MMSE效应在疾病负担和症状发作接近程度方面显示出统计学上的显著差异。
接近显性阶段的HDC组成员在评估信息处理速度和注意力的测试中表现较差。前额叶认知功能障碍出现得较早，在HD的运动诊断前数年。
