The pattern of atrophy in familial Alzheimer disease: volumetric MRI results from the DIAN study.
The pattern of atrophy in familial Alzheimer disease: volumetric MRI results from the DIAN study.
复制标题
DOI：
10.1212/wnl.0b013e3182a841c6
复制
发表时间：
2013-10-15
期刊：
影响因子：
9.9
通讯作者：
Dominantly Inherited Alzheimer Network (DIAN)
中科院分区：
文献类型：
--
作者：
Cash DM;Ridgway GR;Liang Y;Ryan NS;Kinnunen KM;Yeatman T;Malone IB;Benzinger TL;Jack CR Jr;Thompson PM;Ghetti BF;Saykin AJ;Masters CL;Ringman JM;Salloway SP;Schofield PR;Sperling RA;Cairns NJ;Marcus DS;Xiong C;Bateman RJ;Morris JC;Rossor MN;Ourselin S;Fox NC;Dominantly Inherited Alzheimer Network (DIAN)
评估家族性阿尔茨海默病（FAD）突变携带者中灰质和白色萎缩的区域模式。共有192名参与者的体积T1加权MRI，基因分型和临床诊断可从显性遗传阿尔茨海默病网络。其中，69人为症状前突变携带者，50人为症状携带者（31人临床痴呆评分[CDR] = 0.5，19人CDR > 0.5），73人为来自同一家族的非携带者。基于体素的形态测量用于确定灰质和白色物质体积的横截面组差异。在丘脑和壳核以及颞叶、楔前叶和扣带回中，观察到非携带者和轻度症状（CDR = 0.5）携带者之间的灰质存在显著差异（p < 0.05，家族误差校正）; CDR > 0.5的患者也存在相同的模式，但变化范围更广。非携带者和症状携带者之间的显着白色物质差异在扣带回和穹窿中观察到，这些形式的输入和输出连接到内侧颞叶，扣带回和楔前叶。多重比较校正后，非携带者和症状前携带者之间没有差异，但在接近其估计发病年龄的携带者中，丘脑灰质有减少的趋势。与非携带者相比，无症状或有症状携带者的灰色或白色物质没有显著增加。FAD中的萎缩在早期观察到，既在通常与散发性阿尔茨海默病相关的区域，也在壳核和丘脑中，这两个区域与FAD突变携带者中的早期淀粉样蛋白沉积相关。
To assess regional patterns of gray and white matter atrophy in familial Alzheimer disease (FAD) mutation carriers. A total of 192 participants with volumetric T1-weighted MRI, genotyping, and clinical diagnosis were available from the Dominantly Inherited Alzheimer Network. Of these, 69 were presymptomatic mutation carriers, 50 were symptomatic carriers (31 with Clinical Dementia Rating [CDR] = 0.5, 19 with CDR > 0.5), and 73 were noncarriers from the same families. Voxel-based morphometry was used to identify cross-sectional group differences in gray matter and white matter volume. Significant differences in gray matter (p < 0.05, family-wise error–corrected) were observed between noncarriers and mildly symptomatic (CDR = 0.5) carriers in the thalamus and putamen, as well as in the temporal lobe, precuneus, and cingulate gyrus; the same pattern, but with more extensive changes, was seen in those with CDR > 0.5. Significant white matter differences between noncarriers and symptomatic carriers were observed in the cingulum and fornix; these form input and output connections to the medial temporal lobe, cingulate, and precuneus. No differences between noncarriers and presymptomatic carriers survived correction for multiple comparisons, but there was a trend for decreased gray matter in the thalamus for carriers closer to their estimated age at onset. There were no significant increases of gray or white matter in asymptomatic or symptomatic carriers compared to noncarriers. Atrophy in FAD is observed early, both in areas commonly associated with sporadic Alzheimer disease and also in the putamen and thalamus, 2 regions associated with early amyloid deposition in FAD mutation carriers.