Premi Enrico, Garibotto Valentina, Gazzina Stefano, Formenti Anna, Archetti Silvana, Gasparotti Roberto, Padovani Alessandro, Borroni Barbara
Centre for Ageing Brain and Neurodegenerative Disorders, Neurology Unit, Brescia, Italy.
Department of Medical Imaging, Geneva University Hospital, Geneva, Switzerland.
Dement Geriatr Cogn Dis Extra. 2014 Apr 23;4(1):95-102. doi: 10.1159/000355428. eCollection 2014 Jan.
BACKGROUND/AIMS: Parkinsonism is often associated with symptoms of frontotemporal dementia (FTD), but its pathogenesis has been largely neglected. In genetic inherited FTD-related granulin (GRN) mutations, parkinsonism is an early sign, and it is more common than in sporadic disorders. Our aim was to study grey matter (GM) volume changes in subcortical and deep cortical regions in GRN-related FTD.
A total of 33 FTD patients (13 carriers of the GRN mutation, GRN+, and 20 non-carriers, GRN-) and 12 healthy controls (HC) were included in the study. Each subject underwent an MRI examination (1) for voxel-based morphometry to study GM differences in cortical and subcortical regions, and (2) for a region of interest approach using a probabilistic atlas of subcortical regions (caudate nucleus, putamen, thalamus and amygdala) to assess the regional differences.
The GRN+ group showed greater damage in frontotemporal regions than the GRN- group. The FTD patients had greater GM atrophy in the caudate nucleus and in the thalamus bilaterally than the HC. Damage to these subcortical and deep cortical regions was greater in the GRN+ than in the GRN- patients.
Subcortical and deep cortical involvement is a key feature of FTD, and more pronounced in GRN-related disease. Damage to the caudate region in GRN+ patients may explain the parkinsonism frequently associated since the early stages of the disease.
背景/目的：帕金森综合征常与额颞叶痴呆（FTD）症状相关，但其发病机制在很大程度上被忽视。在与遗传遗传性FTD相关的颗粒蛋白（GRN）突变中，帕金森综合征是早期症状，且比散发性疾病中更常见。我们的目的是研究与GRN相关的FTD患者皮质下和深部皮质区域的灰质（GM）体积变化。
本研究共纳入33例FTD患者（13例GRN突变携带者，GRN+，和20例非携带者，GRN-）以及12名健康对照者（HC）。每位受试者均接受了MRI检查：（1）基于体素的形态测量法，以研究皮质和皮质下区域的GM差异；（2）使用皮质下区域（尾状核、壳核、丘脑和杏仁核）的概率图谱进行感兴趣区分析，以评估区域差异。
GRN+组在额颞叶区域的损伤比GRN-组更严重。FTD患者双侧尾状核和丘脑的GM萎缩程度比HC更大。GRN+患者的这些皮质下和深部皮质区域的损伤比GRN-患者更严重。
皮质下和深部皮质受累是FTD的关键特征，在与GRN相关的疾病中更为明显。GRN+患者尾状核区域的损伤可能解释了该疾病早期常伴发的帕金森综合征。
