Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1.
Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1.
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DOI：
10.1016/j.nicl.2016.06.011
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Siciliano G
中科院分区：
文献类型：
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作者：
Baldanzi S;Cecchi P;Fabbri S;Pesaresi I;Simoncini C;Angelini C;Bonuccelli U;Cosottini M;Siciliano G
强直性肌营养不良1型（DM 1）具有广泛的表型谱，可能影响中枢神经系统，轻度至重度受累。我们的目的是调查灰质（GM）和白色物质（WM）的结构改变在成人发病的DM 1患者的样本，并评估与临床和认知变量的关系。对30例DM 1患者进行神经心理学调查和3 T-MRI检查。计算脑实质分数（BPF）、基于体素的形态计量学（VBM）、白色病变负荷（LL%和Fazekas量表）和基于束的空间统计学（TBSS）来评价GM和WM的变化。患者在探索执行和记忆领域的测试中表现出主要损害，并伴有视觉空间参与，与BPF显著相关。与一组匹配的健康对照组相比，VBM显示了广泛GM减少的集群，TBSS显示了患者中各向异性分数（FA）降低和径向扩散率（RD）、平均扩散率（MD）和轴向扩散率（AD）增加的区域。多元回归分析显示，左颞叶萎缩和言语记忆，RD和记忆和视觉空间认知领域之间的显着负相关关系，以及AD和言语记忆之间的领域。TBSS结果表明，正常外观WM的参与，超出了常规MR成像（Fazekas量表和LL%）检测到的信号变化，与神经心理缺陷相关。这些数据表明，破坏复杂的神经元网络可能是DM 1中认知行为功能障碍的基础。我们对成人发病DM 1患者样本进行了VBM和TBSS分析。研究了神经影像学变量与认知特征之间的关系。全球萎缩与执行和视觉空间能力。TBSS揭示了DTI指标与认知能力之间的关联。复杂神经元网络的破坏可能是DM 1认知功能障碍的基础。
Myotonic dystrophy type 1 (DM1) has a wide phenotypic spectrum and potentially may affect central nervous system with mild to severe involvement. Our aim was to investigate grey matter (GM) and white matter (WM) structural alterations in a sample of adult-onset DM1 patients and to evaluate relationship with clinical and cognitive variables. Thirty DM1 patients underwent neuropsychological investigation and 3T-MRI protocol. GM and WM changes were evaluated calculating brain parenchymal fraction (BPF), voxel-based morphometry (VBM), white matter lesion load (LL% and Fazekas scale) and tract based spatial statistical (TBSS). Patients showed main impairment in tests exploring executive and mnesic domains with visuo-spatial involvement, significantly related to BPF. VBM revealed clusters of widespread GM reduction and TBSS revealed areas of decreased fractional anisotropy (FA) and increased radial diffusivity (RD), mean diffusivity (MD) and axial diffusivity (AD) in patients compared to a group of matched healthy controls. Multiple regression analyses showed areas of significant negative relationship between left temporal atrophy and verbal memory, between RD and mnesic and visuo-spatial cognitive domains, and between AD and verbal memory. TBSS results indicate that the involvement of normal appearance WM, beyond the signal changes detected with conventional MR imaging (Fazekas scale and LL%), was associated with neuropsychological deficit. These data suggest that disrupted complex neuronal networks can underlie cognitive-behavioural dysfunctions in DM1. We performed VBM and TBSS analyses in a sample of adult-onset DM1 patients. The relationship between neuroimaging variables and cognitive profile was studied. Global atrophy correlated with executive and visuo-spatial abilities. TBSS revealed associations between DTI indexes and cognitive performances. Disrupted complex neuronal networks can underlie cognitive dysfunction in DM1.