Peng Huiling, Peck Dawn, White Desirée A, Christ Shawn E
Department of Psychological Sciences, University of Missouri, 210 McAlester Hall, Columbia, MO, 65203, USA.
J Inherit Metab Dis. 2014 Mar;37(2):237-43. doi: 10.1007/s10545-013-9650-y. Epub 2013 Sep 17.
Previous research has documented white matter abnormalities in the brains of individuals with early-treated phenylketonuria (ETPKU). The majority of these past studies have relied on a region-based approach which focused on a limited number of spatially-defined regions within the brain. In the present study, we used diffusion tensor imaging (DTI) in conjunction with tract-based spatial statistics (TBSS) to perform an extensive examination of white matter tracts in the brains of ten individuals with ETPKU (mean age = 23.2 years) and 12 healthy non-PKU individuals (mean age = 23.5 years). Consistent with past research, we found that mean diffusivity (MD) was significantly restricted in the ETPKU group, and fractional anisotropy (FA) was comparable between the ETPKU and non-PKU groups. Moreover, we found restricted axial diffusivity (AD) and radial diffusivity (RD) in our ETPKU in numerous white matter tracts, suggesting widespread white matter compromise in ETPKU. In addition, this white matter pathology was more evident in older ETPKU participants with higher blood phenylalanine (phe) levels as compared to younger participants with lower phe levels.
以往的研究已记录了早期治疗的苯丙酮尿症（ETPKU）患者大脑中的白质异常。过去的大多数研究都采用基于区域的方法，该方法聚焦于大脑内数量有限的空间定义区域。在本研究中，我们使用扩散张量成像（DTI）结合基于纤维束的空间统计学（TBSS），对10名ETPKU患者（平均年龄 = 23.2岁）和12名健康非PKU个体（平均年龄 = 23.5岁）大脑中的白质纤维束进行了广泛检查。与以往研究一致，我们发现ETPKU组的平均扩散率（MD）显著受限，且ETPKU组和非PKU组之间的分数各向异性（FA）相当。此外，我们发现ETPKU患者的许多白质纤维束中轴向扩散率（AD）和径向扩散率（RD）受限，提示ETPKU患者存在广泛的白质损害。此外，与血苯丙氨酸（phe）水平较低的年轻参与者相比，这种白质病变在血phe水平较高的老年ETPKU参与者中更为明显。
