Autti Taina H, Hämäläinen Janne, Mannerkoski Minna, Van Leemput Koen Van, Aberg Laura E
Helsinki Medical Imaging Center, Helsinki University Central Hospital, 340, 00029, HUS, Finland.
J Neurol. 2008 Aug;255(8):1226-30. doi: 10.1007/s00415-008-0891-x. Epub 2008 Jul 17.
Juvenile neuronal ceroid lipofuscinosis (JNCL, CLN3) is an inherited lysosomal disease. We used longitudinal MRI, for the first time, to evaluate the rate of brain volume alterations in JNCL. Six patients (mean ages of 12.4 years and 17.3 years) and 12 healthy controls were studied twice with 1.5 T MRI. White matter (WM), gray matter (GM) and CSF volumes were measured from the sets of T1-weighted 3-dimensional MR images using a fully automated image-processing procedure. The brain volume alterations were calculated as percentage change per year. The GM and whole brain volumes decreased and the CSF volume increased significantly more in the patients than in controls (p-values for the null hypothesis of equal means were 0.001, 0.004, and 0.005, respectively). We found no difference in the WM volume change between the populations. In patients, the GM volume decreased 2.4 % (SD 0.5 %, p 0.0001 for the null hypothesis of zero mean change between observations), the whole brain volume decreased 1.1 % (SD 0.5 %, p = 0.003), and the CSF volume increased 2.7 % (SD 1.8 %, p = 0.01) per year. In normal controls, only the mean white matter volume was significantly altered (0.8 % increase, SD 0.7 %, and p = 0.001).
We demonstrated by longitudinal MRI that the annual rate of the gray matter loss in adolescent JNCL patients is as high as 2.4 %.
青少年神经元蜡样脂褐质沉积症（JNCL，CLN3）是一种遗传性溶酶体疾病。我们首次使用纵向磁共振成像（MRI）来评估JNCL患者脑容量改变的速率。对6例患者（平均年龄分别为12.4岁和17.3岁）和12名健康对照者进行了两次1.5T MRI检查。使用全自动图像处理程序从T1加权三维磁共振图像集中测量白质（WM）、灰质（GM）和脑脊液（CSF）体积。脑容量改变以每年的百分比变化来计算。与对照组相比，患者的灰质和全脑体积减少，脑脊液体积增加更为显著（均值相等的零假设的p值分别为0.001、0.004和0.005）。我们发现两组人群的白质体积变化没有差异。在患者中，灰质体积每年减少2.4%（标准差0.5%，观察值之间零均值变化的零假设的p值为0.0001），全脑体积每年减少1.1%（标准差0.5%，p = 0.003），脑脊液体积每年增加2.7%（标准差1.8%，p = 0.01）。在正常对照组中，只有平均白质体积有显著改变（增加0.8%，标准差0.7%，p = 0.001）。
我们通过纵向MRI证明，青少年JNCL患者灰质每年的丢失率高达2.4%。
