Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I
Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I
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DOI：
10.1111/jon.12786
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发表时间：
2020-09-16
影响因子：
2.4
通讯作者：
Fernandez-Ruiz, Juan
中科院分区：
文献类型：
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作者：
Lopez-Titla, Maria Margarita;Chirino, Amanda;Fernandez-Ruiz, Juan
背景和目的I型强直性肌营养不良症（Myotonic Dystrophy Type I，DM 1）是一种神经退行性、遗传性和多系统性疾病，由于位于肌营养不良症肌强直蛋白激酶（Dystrometic Myotonica Protein Kinase，DMPK）基因上的CTG三核苷酸扩增而具有多种症状。先前的报告显示这些患者的认知功能恶化。鉴于白色物质（WM）退化也已报告在DM 1患者，在这里，我们探讨了在DM 1患者的认知功能的改变可能与WM的恶化。方法采用剑桥神经心理测验（CANTAB）对22例年龄18-56岁的典型DM 1患者和22例健康对照者进行神经心理学评估。采用肌肉损伤评定量表（MIRS）对患者进行评估。然后，我们使用从3 T MR扫描仪获取的扩散张量成像（DTI）数据中获得的分数各向异性（FA）指数来评估大脑WM的完整性。结果DM 1患者表现出整个大脑WM完整性的普遍降低。同样，患者的神经心理学评估显示，在记忆和解决问题的任务显着缺陷。相关性分析表明，FA恶化之间的显着相关性在额叶，颞内侧，顶叶和延迟匹配的样本赤字。结论：我们的研究结果表明，尽管广泛的WM完整性损失DM 1障碍，特定的记忆障碍可以与这些患者的WM恶化的离散领域。
BACKGROUND AND PURPOSE Myotonic Dystrophy Type I (DM1) is a neurodegenerative, genetic, and multisystemic disorder with a large variety of symptoms due to a CTG trinucleotide expansion located on Dystrophia Myotonica Protein Kinase (DMPK) gene. Previous reports have shown cognitive deterioration in these patients. Given that white matter (WM) degradation has also been reported in DM1 patients, here we explored if alterations in the cognitive profile of DM1 patients could be related to the deterioration of WM. METHODS A total of 22 classic DM1 patients with age range (18-56 years) and 22 matched healthy control subjects were neuropsychological evaluated by the Cambridge Neuropsychological Test Automated (CANTAB). Patients were evaluated with the Muscular Impairment Rating Scale (MIRS). We then evaluated the cerebral WM integrity using the Fractional Anisotropy (FA) index obtained from the Diffusion Tensor Imaging (DTI) data acquired with a 3T MR scanner. RESULTS DM1 patients showed generalized reduction of WM integrity across the brain. Similarly, patients' neuropsychological evaluation showed significant deficits in memory and problem-solving tasks. Correlation analyses showed a significant correlation between FA deterioration at frontal, temporomedial, and parietal lobes and delayed matched to sample deficits. CONCLUSIONS Our results suggest that despite the pervasive WM integrity loss in DM1 disorder, specific memory impairments can be associated to discreet areas of WM deterioration in these patients.