Cerebral cortex structure in prodromal Huntington disease.
Cerebral cortex structure in prodromal Huntington disease.
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DOI：
10.1016/j.nbd.2010.07.014
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发表时间：
2010-12
影响因子：
6.1
通讯作者：
Paulsen, Jane S.
中科院分区：
文献类型：
--
作者：
Nopoulos, Peggy C.;Aylward, Elizabeth H.;Ross, Christopher A.;Johnson, Hans J.;Magnotta, Vincent A.;Juhl, Andrew R.;Pierson, Ronald K.;Mills, James;Langbehn, Douglas R.;Paulsen, Jane S.
对亨廷顿病基因扩增但尚未确诊（称为前驱HD）的受试者进行的神经影像学研究报告称，尽管纹状体和大脑白质体积减少，但皮质“幸免于难”。全皮质体积的测量可以掩盖体积、变薄或表面积中更细微但可能与临床相关的区域变化。本研究通过评价523例前驱期HD受试者的皮质形态来解决这一局限性。参与者包括693名参加PREDICT-HD方案的个体。在这些参与者中，523人携带HD基因突变（前驱HD组）;其余170人未进行基因扩增，并作为对照组。根据年龄和CAG重复序列长度，基因扩增受试者被分为“远离发病”、“发病中期”、“接近发病”和“已确诊”。使用FreeSurfer处理MRI扫描。皮质体积、厚度和表面积在远离发病组和对照组之间没有显著差异。然而，从中途发作组开始，皮质体积显着减少，影响大部分后部和上级大脑区域。当评估组进一步进入疾病过程时，这种模式有所进展。大部分未受影响的区域包括额叶和颞叶皮层的腹侧和内侧区域。形态学变化主要是变薄，因为大多数区域的表面积没有实质性变化。在HD病程早期，皮质显示出明显的变化，表现为皮质变薄，并且在大脑的后部和上级区域中最明显。
Neuroimaging studies of subjects who are gene-expanded for Huntington Disease, but not yet diagnosed (termed prodromal HD), report that the cortex is “spared,” despite the decrement in striatal and cerebral white-matter volume. Measurement of whole-cortex volume can mask more subtle, but potentially clinically relevant regional changes in volume, thinning, or surface area. The current study addressed this limitation by evaluating cortical morphology of 523 prodromal HD subjects. Participants included 693 individuals enrolled in the PREDICT-HD protocol. Of these participants, 523 carried the HD gene mutation (prodromal HD group); the remaining 170 were non gene-expanded and served as the comparison group. Based on age and CAG repeat length, gene-expanded subjects were categorized as “Far from onset,” “Midway to onset,” “Near onset,” and “already diagnosed.” MRI scans were processed using FreeSurfer. Cortical volume, thickness, and surface area were not significantly different between the Far from onset group and controls. However, beginning in the Midway to onset group, the cortex showed significant volume decrement, affecting most the posterior and superior cerebral regions. This pattern progressed when evaluating the groups further into the disease process. Areas that remained mostly unaffected included ventral and medial regions of the frontal and temporal cortex. Morphologic changes were mostly in thinning as surface area did not substantially change in most regions. Early in the course of HD, the cortex shows changes that are manifest as cortical thinning and are most robust in the posterior and superior regions of the cerebrum.
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