Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Sydney, Australia.
J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):304-9. doi: 10.1136/jnnp.2009.179630.
Neurofibromatosis type 1 (NF1) is a common neurogenetic condition associated with cognitive dysfunction and learning disability. Over the past decade, important and consistent findings have emerged that provide insight into the neurobiological correlates of NF1. In this review, we examine the structural and functional neuroimaging literature in individuals with NF1 and discuss findings that have emerged. Collectively, the studies reviewed here highlight structural and functional brain abnormalities as a feature of NF1 and that these abnormalities contribute to the cognitive impairments that are commonly seen. The most compelling structural finding has been an increase in total brain volume with additional areas of interest including the corpus callosum, cerebral asymmetries and differences in grey and white matter. Although the application of functional neuroimaging techniques in NF1 is in its infancy, early evidence suggests alterations in brain organisation for language and visuospatial function as well as thalamic hypometabolism. Suggestions for future research are discussed, including the importance of addressing specific hypotheses in well-defined subsamples of children with NF1 using appropriate control groups. Identifying the underlying neuropathology of NF1 will be of increased importance as targeted interventions begin to emerge.
神经纤维瘤病 1 型（NF1）是一种常见的神经遗传性疾病，与认知功能障碍和学习障碍有关。在过去的十年中，出现了一些重要且一致的发现，这些发现为 NF1 的神经生物学相关性提供了深入了解。在这篇综述中，我们检查了 NF1 个体的结构和功能神经影像学文献，并讨论了出现的发现。总的来说，这里回顾的研究强调了结构和功能脑异常是 NF1 的一个特征，这些异常导致了常见的认知障碍。最引人注目的结构发现是总脑容量增加，还有其他感兴趣的区域，包括胼胝体、大脑不对称以及灰质和白质的差异。尽管功能神经影像学技术在 NF1 中的应用还处于起步阶段，但早期证据表明语言和视空间功能的大脑组织改变以及丘脑代谢减退。讨论了未来研究的建议，包括使用适当的对照组，在具有明确特征的 NF1 儿童亚组中针对特定假设进行研究的重要性。随着靶向干预措施的出现，确定 NF1 的潜在神经病理学将变得更加重要。
