Institute of Psychology, Leiden University, Leiden, The Netherlands.
Leiden Institute for Brain and Cognition (LIBC), Leiden University, Leiden, The Netherlands.
Brain Imaging Behav. 2017 Dec;11(6):1731-1740. doi: 10.1007/s11682-016-9641-3.
Neurofibromatosis Type 1 (NF1) is commonly associated with deficits in executive functions such as working memory and inhibitory control. A valid biomarker to describe the pathological basis of these deficits in NF1 is not available. The aim of this study was to investigate whether any abnormalities in white matter integrity of the executive function related anterior thalamic radiation (ATR), cingulate bundle (CB), and superior longitudinal fasciculus (SLF) may be regarded as a pathological basis for inhibitory control deficits in adolescents with NF1. Sixteen NF1 patients and 32 healthy controls underwent 3 T DTI MRI scanning. Whole brain-, ATR-, CB-, and SLF-white matter integrity were studied using fractional anisotropy, mean (MD), radial, and axial (DA) diffusivity. Correlation analyses between white matter metrics and inhibitory control (as measured with a computerized task) were performed. Also, verbal and performance abilities (IQ-estimates) were assessed and correlated with white matter metrics. Patients showed significant whole brain- and local microstructural pathology when compared to healthy controls in all measures. In NF1-patients, whole-brain (MD: r = .646 and DA: r = .673) and ATR- (r-range: -.405-.771), but not the CB- (r-range: -.307-.472) and SLF- (r-range: -.187-.406) white matter integrity, were correlated with inhibitory control. Verbal and performance abilities were not associated with white matter pathology. In NF1, white matter abnormalities are observed throughout the brain, but damage to the ATR seems specifically, or at least most strongly related to inhibitory control. Future studies should examine whether reduced white matter integrity in other brain regions or tracts is (more strongly) associated with different aspects of the cognitive-behavioral phenotype associated with NF1.
神经纤维瘤病 1 型（NF1）常伴有执行功能障碍，如工作记忆和抑制控制。目前还没有有效的生物标志物来描述 NF1 患者这些缺陷的病理基础。本研究旨在探讨 NF1 青少年执行功能相关的前丘脑辐射（ATR）、扣带束（CB）和上纵束（SLF）的白质完整性是否存在异常，这些异常是否可以作为抑制控制缺陷的病理基础。16 名 NF1 患者和 32 名健康对照者接受了 3T DTI MRI 扫描。使用各向异性分数（FA）、平均弥散度（MD）、径向弥散度（RD）和轴向弥散度（DA）研究了全脑、ATR、CB 和 SLF 的白质完整性。对白质指标与抑制控制（通过计算机任务测量）之间的相关性进行了分析。还评估了言语和表现能力（智商估计），并与白质指标相关联。与健康对照组相比，患者在所有测量指标中均显示出明显的全脑和局部微观结构病变。在 NF1 患者中，全脑（MD：r=.646 和 DA：r=.673）和 ATR-（r 范围：-.405-.771），但不是 CB-（r 范围：-.307-.472）和 SLF-（r 范围：-.187-.406）的白质完整性与抑制控制相关。言语和表现能力与白质病变无关。在 NF1 中，大脑的各个部位都观察到白质异常，但 ATR 的损伤似乎与抑制控制有特定的（或至少是最强烈的）相关性。未来的研究应该检查其他脑区或束的白质完整性是否（更强烈）与 NF1 相关的认知行为表型的不同方面相关。
