.png){kind=icon}
返回
Diffusion tensor imaging in Joubert syndrome
.png){kind=icon}
OA
AI
DOI：10.3174/ajnr.A0703.png)
.png){kind=icon}
.png){kind=icon}
分享.png){kind=icon}
收藏
摘要
En 中文
BACKGROUND AND PURPOSE: Neuropathologic findings and preliminary imaging studies demonstrated the absence of pyramidal tract and superior cerebellar peduncular decussation in individual patients with Joubert syndrome (JS). We hypothesized that functional-structural neuroimaging findings do not differ between the genetic forms of JS. MATERIALS AND METHODS: MR imaging was performed with a 3T MR imaging-unit. Multiplanar T2-and TI-weighted imaging was followed by diffusion tensor imaging (DTI). Isotropic diffusion-weighted images, apparent diffusion coefficient maps, and color-coded fractional anisotropy maps, including tractography, were subsequently calculated. RESULTS: In all 6 patients studied, DTI showed that the fibers of the superior cerebellar peduncles did not decussate in the mesencephalon and the corticospinal tract failed to cross in the caudal medulla. The patients represented various genetic forms of JS. CONCLUSION: In JS, the fibers of the pyramidal tract and the superior cerebellar peduncles do not cross, irrespective of the underlying mutation.
Keyword:
ABNORMAL EYE-MOVEMENTS
NPHP1 GENE DELETION
CEREBELLAR VERMIS
CENTROSOMAL PROTEIN
EPISODIC HYPERPNEA
MUTATIONS
MRI
LOCUS
RETARDATION
FAMILIES
AI总结
对已上传原文的论文进行重点信息的提取，主要内容包括：简要概述、研究摘要、背景介绍、关键亮点、图文解析、展望与总结。
期刊
IF:
3.7
论文数:
7.2K
被引数:
2.4W
机构
暂无机构信息
引用论文
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.png)
NATURE GENETICS
NATURE GENETICSIF31.8
PREAI
分享收藏分享收藏分享收藏A silicon pressure sensor with stainless diaphragm for high temperature and chemical application
PREAI
分享收藏Mutations in the AHI1 gene, encoding Jouberin, cause Joubert syndrome with cortical polymicrogyriaOAAI
OAAI分享收藏
查看更多内容