Peters Jurriaan M, Taquet Maxime, Prohl Anna K, Scherrer Benoit, van Eeghen Agnies M, Prabhu Sanjay P, Sahin Mustafa, Warfield Simon K
Department of Neurology & the Division of Epilepsy & Clinical Neurophysiology, Boston Children's Hospital, 300 Longwood Avenue, Fegan 9, Boston, MA 02115, USA ; Department of Radiology & the Computational Radiology Laboratory, Boston Children's Hospital, Boston, MA 02115, USA.
Department of Radiology & the Computational Radiology Laboratory, Boston Children's Hospital, Boston, MA 02115, USA ; ICTEAM Institute, Université catholique de Louvain, Place du Levant 2 bte L5.04.04, 1348 Louvain-La-Neuve, Belgium.
Future Neurol. 2013 Sep;8(5):583-597. doi: 10.2217/fnl.13.37.
In this article, the authors aim to introduce the nonradiologist to diffusion tensor imaging (DTI) and its applications to both clinical and research aspects of tuberous sclerosis complex. Tuberous sclerosis complex is a genetic neurocutaneous syndrome with variable and unpredictable neurological comorbidity that includes refractory epilepsy, intellectual disability, behavioral abnormalities and autism spectrum disorder. DTI is a method for modeling water diffusion in tissue and can noninvasively characterize microstructural properties of the brain. In tuberous sclerosis complex, DTI measures reflect well-known pathological changes. Clinically, DTI can assist with detecting the epileptogenic tuber. For research, DTI has a putative role in identifying potential disease biomarkers, as DTI abnormalities of the white matter are associated with neurocognitive morbidity including autism. If indeed DTI changes parallel phenotypical changes related to the investigational treatment of epilepsy, cognition and behavior with mTOR inhibitors, it will facilitate future clinical trials.
在本文中，作者旨在向非放射科医生介绍扩散张量成像（DTI）及其在结节性硬化症临床和研究方面的应用。结节性硬化症是一种遗传性神经皮肤综合征，具有多种不可预测的神经合并症，包括难治性癫痫、智力残疾、行为异常和自闭症谱系障碍。DTI是一种用于模拟组织中水分子扩散的方法，能够无创地表征脑微观结构特性。在结节性硬化症中，DTI测量结果能很好地反映已知的病理变化。临床上，DTI有助于检测致痫结节。在研究方面，DTI在识别潜在疾病生物标志物方面具有推定作用，因为白质的DTI异常与包括自闭症在内的神经认知发病率相关。如果DTI变化确实与mTOR抑制剂治疗癫痫、认知和行为的研究性治疗相关的表型变化平行，那么将有助于未来的临床试验。
