| Abstract: | 結節硬化症 (Tuberous Sclerosis Complex, TSC)是一種染色體異常疾病，為一種罕見
的遺傳疾病。目前已知的病因有 TSC1(結節性硬化症第一型)、TSC2(結節性硬化症第二
型)兩種類型的基因突變。結節硬化症易產生神經心理共病，如癲癇、自閉症、智能發
展障礙、認知功能問題等。許多國外研究已證實此疾病的腦中皮質結節與神經心理共病
相關。眾多研究當中只大多探討結節硬化症的皮質結節是否影響生理功能、神經心理及
行為，但並無太多研究使用功能性磁振照影(fMRI)做近一步的討論，且在台灣並無太多
結節硬化症或磁振照影研究探討此方面結節硬化症之問題。本研究將結節硬化症患者之
神經心理相關共病做分類，結合磁振照影 (Magnetic Resonance Imaging, MRI)及靜息態
磁振造影 (resting -state fMRI, rs -fMRI)深究結節硬化症腦部的網路連結；再使用圖論分
析法(Graph Theoretical Analysis, GTA)、擴散張量成像 (Diffusion Tensor Imaging, DTI)、
基於網路之統計分析(Network-Based Statistic, NBS)三種分析法探討大腦網路連結表現
之相關性。
Tuberous sclerosis complex (TSC) is a chromosomal abnormal disease, also a rarely seen
genetic disease. So far, the genetic mutations of TSC1 or TSC2 are the only two known
causes that lead to this syndrome. The Tuberous sclerosis complex usually causes Neuropsychiatric disorder, like Epilepsy, Autism, Intellectual disability, Cognitive deficits,
and so on. While many of the foreign studies have discovered that the cortical tuber of the brain is correlated with Neuropsychiatric disorder, with the only focus on whether the Tuberous sclerosis complex has significant effect on the biological, physiological functions,
and neurobehavioral disorder. In addition, the functional MRI was hardly ever employed for
the further and detailed discussion, and Taiwan is no exception. In this study, we will divide the patients of Tuberous sclerosis complex into different segments, combining with both the Magnetic Resonance Imaging (MRI) and Resting -state fMRI (rs –fMRI), to investigate the brain networks in Tuberous sclerosis complex. Various different analysis like Graph
Theoretical Analysis (GTA), Diffusion Tensor Imaging (DTI) and Network-Based Statistic (NBS), were also carried out to further investigation. |
