Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions
Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions
复制标题
神经影像学研究揭示 1 型神经纤维瘤病和大缺失患者大脑的结构异常
DOI：
10.1097/00125817-199905000-00004
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发表时间：
1999
影响因子：
8.8
通讯作者：
T. Poussaint
中科院分区：
文献类型：
--
作者：
B. Korf;G. Schneider;T. Poussaint
目的：1型神经纤维瘤病（NF1）患者认知问题的基础尚不清楚。NF1基因缺失的NF1患者的一个子集有严重的学习问题或精神发育迟滞。我们已经审查了神经影像学研究（CT和MRI）在五个这样的患者，以确定是否在大脑中的结构异常，并可能解释受损的认知functions.Methods：5例NF1和缺失的整个基因被确定由FISH研究。一项回顾性研究进行了CT和MRI图像，以及发育评估的数据。结果：所有五名患者有严重的发育障碍。没有人接受过化疗或放疗。所有患者均有多个明亮的T2信号强度区域。结构异常被认为是在五个病人中的三个，其中包括胼胝体发育不全，中隔腔室海绵体和透明的两个，巨大的枕大池在一个，和基亚里I畸形与严重的脑积水在一个patient.Conclusion：个人与NF 1和大基因缺失的脑结构异常的频率增加，通常不会出现在NF 1患者。这表明，这些个体的智力迟钝至少部分是由于大脑发育异常，而不是由于NF1基因产物的单倍性而导致的大脑功能缺陷。
Purpose: The basis for cognitive problems in patients with neurofibromatosis type 1 (NF1) is unknown. A subset of NF1 patients with deletion of the entire NF1 gene has severe learning problems or mental retardation. We have reviewed neuroimaging studies (CT and MRI) in five such patients to determine whether structural anomalies in the brain are present and might explain the impaired cognitive function.Methods: Five patients with NF1 and deletion of the entire gene were identified by FISH studies. A retrospective review was conducted of CT and MRI images, as well as of data from developmental assessments.Results: All five patients had severe developmental impairment. None had been exposed to chemotherapy or radiation therapy. All had multiple regions of bright T2 signal intensity. Structural anomalies were seen in three of the five patients and included callosal dysgenesis in one, septum cavum vergae and pellucidum in two, mega cisterna magna in one, and Chiari I malformation with severe hydrocephalus in one patient.Conclusion: Individuals with NF1 and large gene deletions have an increased frequency of structural anomalies of the brain not usually seen in NF1 patients. This suggests that the mental retardation in these individuals is due, at least in part, to abnormal brain development rather than a defect in brain function due to haplosufficiency of the NF1 gene product.
1 型神经纤维瘤病：深部灰质和白质 MR 异常的演变。
DOI：
--
发表时间：
1994
期刊：
AJNR. American journal of neuroradiology
影响因子：
--
作者：
Itoh,T;Magnaldi,S;White,RM;Denckla,MB;Hofman,K;Naidu,S;Bryan,RN
通讯作者：
Bryan,RN
通过荧光原位杂交检测神经纤维瘤病 1 基因座的连续基因缺失。
DOI：
10.1159/000134171
发表时间：
1996
期刊：
Cytogenetics and cell genetics
影响因子：
--
作者：
Leppig,KA;Viskochil,D;Neil,S;Rubenstein,A;Johnson,VP;Zhu,XL;Brothman,AR;Stephens,K
通讯作者：
Stephens,K