Specific Pattern of Early White-Matter Changes in Pure Hereditary Spastic Paraplegia
Specific Pattern of Early White-Matter Changes in Pure Hereditary Spastic Paraplegia
复制标题
DOI：
10.1002/mds.23211
复制
发表时间：
2010-09-15
影响因子：
8.6
通讯作者：
Deppe, Michael
中科院分区：
文献类型：
--
作者：
Duning, Thomas;Warnecke, Tobias;Deppe, Michael
遗传性痉挛性截瘫 (HSP) 是一种遗传和临床异质性神经退行性疾病。大多数 HSP 的 MR 研究包括非常异质的患者样本，结果不一致。在这里，我们通过临床评估、详细的神经心理学测试和神经影像学分析（包括传统 MRI、扩散张量成像 (DTI) 和脑容量测定）检查了 6 名患有纯 HSP 和 SPG4 突变的患者。评估了患者和 32 名健康志愿者之间 DTI 数据的体素统计和基于 ROI 分析的差异。尽管常规 MRI 和脑容量正常，但 DTI 显示白质 (WM) 完整性广泛受损 (P < 0.001)，主要影响皮质脊髓束。随着病程的延长，额叶区域也受到影响。 WM 变化也存在于携带致病突变的亚临床受试者中。这些微妙的 WM 异常具有功能相关性，因为它们与临床症状相关。因此，可以通过 DTI 检测到的神经纤维的早期改变可能作为 HSP 的生物标志物，特别是在未来的纵向研究中。 (c) 2010 运动障碍协会
Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. Most MR studies on HSP include very heterogeneous samples of patients, and findings were inconsistent. Here, we examined six patients with pure HSP and SPG4 mutations by clinical evaluation, detailed neuropsychological testing, and neuroimaging analyses, including conventional MRI, diffusion tensor imaging (DTI), and brain volumetry. Differences of voxel-wise statistics and ROI-based analysis of DTI data between patients and 32 healthy volunteers were evaluated. Although conventional MRI and brain volumetry were normal, DTI revealed widespread disturbance of white matter (WM) integrity (P < 0.001), mainly affecting the corticospinal tract. With longer disease duration, frontal regions were also involved. The WM changes were also present in subclinical subjects harbouring the pathogenic mutation. These subtle WM abnormalities have functional relevance because they correlated with clinical symptoms. Thus, early alterations of nerve fibres, which can be detected by DTI, might serve as a biological marker in HSP, in particular with respect to future longitudinal studies. (c) 2010 Movement Disorder Society