皮质参与早期和晚期阶段的异染性脑白质营养不良(P7.342)

文摘

目的:研究灰质体积变化来识别参与异染性脑白质营养不良的不同阶段。背景:异染性脑白质营养不良(MLD)是一种遗传性溶酶体储存障碍由于arylsulfatase不足与进步的髓鞘脱失和神经衰落。幼儿和青少年形式存在与主要汽车投入,而成人表现与神经精神症状。最近的一项研究显示灰质体积(GMV)早期阶段。本研究调查不同阶段的MLD体积变化。方法:回顾性研究体积变化相比,使用Freesurfer, 3日d-t1mri扫描时的诊断。对照组相同年龄和性别分布进行扫描在同一扫描仪使用相同的收购。修改为分数(MES)从T2 /天赋获得图像。基于地表的皮质厚度(车车),皮质GMV和脑WM卷(WMV)使用Mann-Whitney-U组间比较。斯皮尔曼之间的相关性进行了智商和MES,对WMV,皮质GMV和车车。 RESULTS: Twenty patients with MLD (mean age 13.7 years, range 2-35) and twenty controls (mean age 13.9 years, range 2-40) were included. Compared with control subjects, late-infantile and juvenile patients (n=14) had significantly diminished cortical GMV (p<0.05), but did not differ in WMV and CTh. Adult patients (n=6) showed significantly reduced cGMV, WMV and CTh (all p<0.05). Neuropsychological testing was available in 14 patients; IQ correlated to MES (r=0.90, p<0.01), not to WMV, cortical GMV and CTh. Lobar analysis, corrected for age and gender, showed statistically significant cortical thinning between MLD patients and controls in the cingulate and frontal lobes (p< 0.05, corrected for multiple comparisons). CONCLUSIONS: Significant cortical GMV loss is already present in early stages of MLD. In adult presentations of MLD, there is more pronounced global atrophy with GMV and WMV loss and cortical thinning, most prominently in the cingulate and frontal lobes. IQ correlated to white matter severity scores (MES), but not to volumetric measures.

披露:Tillema博士没有披露。Derks博士没有披露。Pouwels博士没有披露。格拉夫博士没有披露。Barkhof博士已经收到个人补偿活动与赛诺菲-安万特制药公司,Idec, Teva神经科学,默克公司& Co . Inc .)、诺华、合成纤维BV,詹森,Genzyme Inc .和罗氏诊断公司。Van Der Knaap博士没有披露。沃尔夫博士没有披露。