Cali Ryan J, Nephew Benjamin C, Moore Constance M, Chumachenko Serhiy, Sala Ana Cecilia, Cintron Beatriz, Luciano Carlos, King Jean A, Hooper Stephen R, Giardiello Francis M, Cruz-Correa Marcia
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Department of Psychiatry, UMass Medical School, Worcester, MA, USA.
IBRO Neurosci Rep. 2021 Oct 2;11:137-143. doi: 10.1016/j.ibneur.2021.09.007. eCollection 2021 Dec.
Familial Adenomatous Polyposis (FAP) is an autosomal dominant disorder caused by mutation of the gene presenting with numerous colorectal adenomatous polyps and a near 100% risk of colon cancer. Preliminary research findings from our group indicate that FAP patients experience significant deficits across many cognitive domains. In the current study, fMRI brain metrics in a FAP population and matched controls were used to further the mechanistic understanding of reported cognitive deficits. This research identified and characterized any possible differences in resting brain networks and associations between neural network changes and cognition from 34 participants (18 FAP patients, 16 healthy controls). Functional connectivity analysis was performed using FSL with independent component analysis (ICA) to identify functional networks. Significant differences between cases and controls were observed in 8 well-established resting state networks. With the addition of an aggregate cognitive measure as a covariate, these differences were virtually non-existent, indicating a strong correlation between cognition and brain activity at the network level. The data indicate robust and pervasive effects on functional neural network activity among FAP patients and these effects are likely involved in cognitive deficits associated with this disease.
家族性腺瘤性息肉病（FAP）是一种常染色体显性疾病，由该基因的突变引起，表现为大量结直肠腺瘤性息肉，患结肠癌的风险接近100%。我们团队的初步研究结果表明，FAP患者在许多认知领域存在显著缺陷。在当前研究中，利用FAP人群和匹配对照组的功能磁共振成像（fMRI）脑指标，进一步从机制上理解所报告的认知缺陷。本研究从34名参与者（18名FAP患者、16名健康对照）中识别并描述了静息脑网络的任何可能差异，以及神经网络变化与认知之间的关联。使用具有独立成分分析（ICA）的FSL进行功能连接分析，以识别功能网络。在8个已确立的静息状态网络中观察到病例与对照之间存在显著差异。将综合认知测量作为协变量加入后，这些差异几乎不存在，表明在网络水平上认知与脑活动之间存在强相关性。数据表明FAP患者对功能性神经网络活动有强大且普遍的影响，这些影响可能与该疾病相关的认知缺陷有关。
