Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study
Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study
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DOI：
10.1016/j.neurobiolaging.2018.12.017
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发表时间：
2019-04-01
影响因子：
4.2
通讯作者：
Papma, Janne M.
中科院分区：
文献类型：
--
作者：
Panman, Jessica L.;Jiskoot, Lize C.;Papma, Janne M.
在遗传性额颞叶痴呆中，横断面研究已经确定了C9orf72重复扩增、MAPT和GRN突变的症状前神经解剖学丢失的特征。在这项研究中，我们描述了症状前额颞叶痴呆的纵向灰质(GM)和白质(WM)脑变化。我们纳入了健康C9orf72重复扩增携带者(n=12)、MAPT携带者(n=15)、GRN突变携带者(n=33)和相关的非携带者(n=53)，在基线和2年的随访中进行了磁共振成像。我们在SPM中使用基于体素的形态测量和皮质厚度分析以及在FSL中使用基于区域的空间统计来分析横断面基线、随访和纵向GM和WM的变化。与非携带者相比，C9orf72重复扩增携带者在基线和随访时小脑和岛叶的GM体积较低，丘脑前部放射的WM差异也较小。MAPT基因突变携带者表现为钩状神经束出现明显的GM颞叶改变和纵向WM变性。GRN突变携带者未出现症状前神经变性。这项研究显示，与非携带者相比，C9orf72重复扩增、MAPT和GRN突变携带者的GM和WM变化具有明显的症状前横截面和纵向模式。(C)2019年提交人(S)。由爱思唯尔公司出版。
In genetic frontotemporal dementia, cross-sectional studies have identified profiles of presymptomatic neuroanatomical loss for C9orf72 repeat expansion, MAPT, and GRN mutations. In this study, we characterize longitudinal gray matter (GM) and white matter (WM) brain changes in presymptomatic frontotemporal dementia. We included healthy carriers of C9orf72 repeat expansion (n = 12), MAPT (n = 15), GRN (n = 33) mutations, and related noncarriers (n = 53), that underwent magnetic resonance imaging at baseline and 2-year follow-up. We analyzed cross-sectional baseline, follow-up, and longitudinal GM and WM changes using voxel-based morphometry and cortical thickness analysis in SPM and tract-based spatial statistics in FSL. Compared with noncarriers, C9orf72 repeat expansion carriers showed lower GM volume in the cerebellum and insula, and WM differences in the anterior thalamic radiation, at baseline and follow-up. MAPT mutation carriers showed emerging GM temporal lobe changes and longitudinal WM degeneration of the uncinate fasciculus. GRN mutation carriers did not show presymptomatic neurodegeneration. This study shows distinct presymptomatic cross-sectional and longitudinal patterns of GM and WM changes across C9orf72 repeat expansion, MAPT, and GRN mutation carriers compared with noncarriers. (C) 2019 The Author(s). Published by Elsevier Inc.