Vasung Lana, Rezayev Arthur, Yun Hyuk Jin, Song Jae W, van der Kouwe Andre, Stewart Natalie, Palani Arthi, Shiohama Tadashi, Chouinard-Decorte Francois, Levman Jacob, Takahashi Emi
Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Fetal Neonatal Neuroimaging and Developmental Science Center, Boston, MA, United States.
Front Cell Dev Biol. 2019 Jul 11;7:124. doi: 10.3389/fcell.2019.00124. eCollection 2019.
The development of cortical convolutions, gyri and sulci, is a complex process that takes place during prenatal development. Lissencephaly, a rare genetic condition characterized by the lack of cortical convolutions, offers a model to look into biological processes that lead to the development of convolutions. Retrospective, qualitative, and quantitative analyses of structural magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) were performed in patients with lissencephaly ( = 10) and age-/sex-matched controls ( = 10). In order to identify microstructural correlates of structural MRI and DTI findings, postmortem brains of patients with lissencephaly ( = 4) and age-matched controls ( = 4) were also examined with histology. Patients with lissencephaly had significantly smaller gyrification index and volumes of hemispheric white and gray matter, compared to the age-/sex-matched control group. However, there was no significant difference between groups in the subcortical gray matter volumes. Although the majority of patients with lissencephaly had a preserved normal-like appearance of major fissures and primary sulci, the spatial distribution of agyric cortical regions was different in patients with () and () mutations. Lastly, in patients with lissencephaly, the spatiotemporal distribution of projection pathways was preserved while short- to medium-range cortico-cortical pathways were absent or fewer in number. Our results indicate that in the patients with lissencephaly cortical system is affected more than the subcortical one.
大脑皮质褶皱、脑回和脑沟的发育是一个在产前发育过程中发生的复杂过程。无脑回畸形是一种罕见的遗传性疾病，其特征是缺乏大脑皮质褶皱，为研究导致褶皱发育的生物学过程提供了一个模型。对10例无脑回畸形患者和10例年龄及性别匹配的对照组进行了结构磁共振成像（MRI）和扩散张量成像（DTI）的回顾性、定性和定量分析。为了确定结构MRI和DTI结果的微观结构相关性，还对4例无脑回畸形患者和4例年龄匹配的对照组的尸检大脑进行了组织学检查。与年龄及性别匹配的对照组相比，无脑回畸形患者的脑回化指数以及半球白质和灰质体积明显更小。然而，两组之间皮质下灰质体积没有显著差异。虽然大多数无脑回畸形患者的主要脑沟和初级脑沟外观保留正常，但携带（）和（）突变的患者无脑回皮质区域的空间分布有所不同。最后，在无脑回畸形患者中，投射通路的时空分布得以保留，而短至中程的皮质-皮质通路缺失或数量较少。我们的结果表明，在无脑回畸形患者中，皮质系统比皮质下系统受影响更大。
