Angelman 综合征脑连接异常与临床特征的关系：一种基于 DTI 彩色编码方向图的弥散张量成像轨迹空间统计学的新方法。
Relationship between aberrant brain connectivity and clinical features in Angelman Syndrome: a new method using tract based spatial statistics of DTI color-coded orientation maps.
机构信息
Department of Pediatrics, Children's Hospital of Michigan, Wayne State University, Detroit, MI 48201, United States.
出版信息
Neuroimage. 2012 Jan 2;59(1):349-55. doi: 10.1016/j.neuroimage.2011.07.067. Epub 2011 Jul 30.
AIM
In order to relate brain structural abnormalities to clinical features of Angelman Syndrome (AS), we determined the locations of abnormal regional white matter architecture in AS children using a sensitive and objective whole brain approach to analyze diffusion tensor imaging (DTI) color-coded orientation maps.
METHODS
Using tract based spatial statistics (TBSS) of DTI color-coded orientation maps, the fraction of fibers oriented in the anteroposterior (AP), mediolateral (ML) and superioinferior (SI) directions were determined in whole brain white matter of 7 children with AS (mean age: 70±25.78 months, 5 males) and 7 children with typical development (TD, mean age: 79.8±17.25 months, 4 males). TBSS of FA map was also performed for comparison.
RESULTS
Children with AS had a significantly lower AP component than the TD group in 9 clusters (3 bilateral and 3 unilateral). Bilateral clusters were located in inferior fronto-occipital fasciculus, anterior thalamic radiation and arcuate fasciculus regions. Unilateral clusters involved left brainstem, left cingulum and right uncinate regions. Similarly, children with AS had significantly lower ML component than the TD group in 4 clusters (2 in corpus callosum and 2 unilateral clusters). Unilateral clusters were located in the left cingulum and left anterior thalamic radiation regions. SI component was lower in children with AS in two clusters compared to TD (corticospinal tract and corpus callosum). FA map clusters mostly corresponded with component clusters.
INTERPRETATION
Children with AS have a global impairment of white matter integrity including AP, ML and SI components in whole brain suggesting a potential underlying error with axon guidance mechanisms during brain development possibly due to loss of UBE3A gene expression. Some of this aberrant connectivity can be related to the clinical features of AS.
目的
为了将脑结构异常与 Angelman 综合征（AS）的临床特征联系起来，我们使用一种敏感和客观的全脑方法来分析扩散张量成像（DTI）彩色编码方向图，确定 AS 儿童大脑中异常区域白质结构的位置。
方法
使用 DTI 彩色编码方向图的束内空间统计学（TBSS），在 7 名 AS 儿童（平均年龄：70±25.78 个月，5 名男性）和 7 名具有典型发育的儿童（TD，平均年龄：79.8±17.25 个月，4 名男性）的全脑白质中确定沿前后（AP）、内外（ML）和上下（SI）方向排列的纤维分数。还进行了 FA 图的 TBSS 以作比较。
结果
与 TD 组相比，AS 儿童在 9 个簇中有明显更低的 AP 成分（3 个双侧和 3 个单侧）。双侧簇位于下额枕束、前丘脑辐射和弓状束区域。单侧簇涉及左脑桥、左扣带和右钩束区域。同样，与 TD 组相比，AS 儿童的 ML 成分在 4 个簇中有明显更低的成分（2 个在胼胝体和 2 个单侧簇）。单侧簇位于左扣带和左前丘脑辐射区域。与 TD 相比，AS 儿童的 SI 成分在两个簇中较低（皮质脊髓束和胼胝体）。FA 图簇大多与成分簇相对应。
解释
AS 儿童的整个大脑白质完整性都存在普遍损伤，包括 AP、ML 和 SI 成分，这表明在大脑发育过程中可能由于 UBE3A 基因表达缺失，轴突导向机制存在潜在的错误。这种异常连接的一些可能与 AS 的临床特征有关。
Zotero 插件