From the Florey Institute of Neuroscience and Mental Health (R.M., D.N.V., M.S., A.C., G.D.J.), Heidelberg; Florey Department of Neuroscience and Mental Health (D.N.V., A.C., G.D.J.), University of Melbourne; and Department of Neurology (D.N.V., G.D.J.), Austin Health, Heidelberg, Australia.
Neurology. 2022 Jan 11;98(2):e152-e163. doi: 10.1212/WNL.0000000000013006. Epub 2021 Oct 21.
To identify white matter fiber tracts that exhibit structural abnormality in patients with bottom-of-sulcus dysplasia (BOSD) and investigate their association with seizure activity.
Whole-brain fixel-based analysis of diffusion MRI data was performed to identify white matter fiber tracts with significant reductions in fiber density and cross-section in patients with BOSD (n = 20) when compared to healthy control participants (n = 40). Results from whole-brain analysis were used to investigate the association of fiber tract abnormality with seizure frequency and epilepsy duration.
Despite the focal nature of the dysplasia, patients with BOSD showed widespread abnormality in white matter fiber tracts, including the bilateral corticospinal, corticothalamic, and cerebellothalamic tracts, superior longitudinal fasciculi, corpus callosum (body), and the forceps major. This pattern of bilateral connectivity reduction was not related to the laterality of the lesion. Exploratory post hoc analyses showed that high seizure frequency was associated with greater reduction in fiber density at the forceps major, bilateral corticospinal, and cerebellothalamic tracts.
We demonstrate evidence of a bilaterally distributed, specific white matter network that is vulnerable to disruption in BOSD. The degree of tract abnormality is partly related to seizure activity, but additional contributors such as the genetic background and effects of treatment or environment have not been excluded.
识别底颞叶发育不良(BOSD)患者存在结构异常的白质纤维束,并研究其与癫痫发作活动的关系。
对扩散 MRI 数据进行全脑固定纤维束分析,以识别 BOSD 患者(n=20)与健康对照组参与者(n=40)相比,白质纤维束的纤维密度和横截面积明显减少的部位。使用全脑分析结果来研究纤维束异常与癫痫发作频率和癫痫持续时间的关系。
尽管病变具有局灶性,但 BOSD 患者的白质纤维束表现出广泛的异常,包括双侧皮质脊髓束、皮质丘脑束和小脑丘脑束、上纵束、胼胝体(体部)和内囊前肢。这种双侧连接减少的模式与病变的侧别无关。探索性事后分析显示,癫痫发作频率较高与内囊前肢、双侧皮质脊髓束和小脑丘脑束的纤维密度降低更明显有关。
我们证明了在 BOSD 中存在一种双侧分布的、特定的白质网络,容易受到破坏。纤维束异常的程度部分与癫痫发作活动有关,但不能排除遗传背景以及治疗或环境的影响等其他因素。