Agosta Federica, Basaia Silvia, Spinelli Edoardo G, Facente Federica, Lumaca Laura, Ghirelli Alma, Canu Elisa, Castelnovo Veronica, Sibilla Elisa, Tripodi Chiara, Freri Fabiola, Cecchetti Giordano, Magnani Giuseppe, Caso Francesca, Verde Federico, Ticozzi Nicola, Silani Vincenzo, Caroppo Paola, Prioni Sara, Villa Cristina, Tremolizzo Lucio, Appollonio Ildebrando, Raj Ashish, Filippi Massimo
Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Vita-Salute San Raffaele University, 20132 Milan, Italy.
Brain. 2025 Jun 3;148(6):1994-2007. doi: 10.1093/brain/awae391.
The ability to predict the spreading of pathology in patients with frontotemporal dementia (FTD) is crucial for early diagnosis and targeted interventions. In this study, we examined the relationship between network vulnerability and longitudinal progression of atrophy in FTD patients, using the network diffusion model (NDM) of the spread of pathology. Thirty behavioural variant FTD (bvFTD), 13 semantic variant primary progressive aphasia (svPPA), 14 non-fluent variant primary progressive aphasia (nfvPPA) and 12 semantic behavioural variant FTD (sbvFTD) patients underwent longitudinal T1-weighted MRI. Fifty young controls (20-31 years of age) underwent multi-shell diffusion MRI scan. An NDM was developed to model progression of FTD pathology as a spreading process from a seed through the healthy structural connectome, using connectivity measures from fractional anisotropy and intracellular volume fraction in young controls. Four disease epicentres were initially identified from the peaks of atrophy of each FTD variant: left insula (bvFTD), left temporal pole (svPPA), right temporal pole (sbvFTD) and left supplementary motor area (nfvPPA). Pearson's correlations were calculated between NDM-predicted atrophy in young controls and the observed longitudinal atrophy in FTD patients over a follow-up period of 24 months. The NDM was then run for all 220 brain seeds to verify whether the four epicentres were among those that yielded the highest correlation. Using the NDM, predictive maps in young controls showed progression of pathology from the peaks of atrophy in svPPA, nfvPPA and sbvFTD over 24 months. svPPA exhibited early involvement of the left temporal and occipital lobes, progressing to extensive left hemisphere impairment. nfvPPA and sbvFTD spread in a similar manner bilaterally to frontal, sensorimotor and temporal regions, with sbvFTD additionally affecting the right hemisphere. Moreover, the NDM-predicted atrophy of each region was positively correlated with longitudinal real atrophy, with a greater effect in svPPA and sbvFTD. In bvFTD, the model starting from the left insula (the peak of atrophy) demonstrated a highly left-lateralized pattern, with pathology spreading to frontal, sensorimotor, temporal and basal ganglia regions, with minimal extension to the contralateral hemisphere by 24 months. However, unlike the atrophy peaks observed in the other three phenotypes, the left insula did not show the strongest correlation between the estimated and real atrophy. Instead, the bilateral superior frontal gyrus emerged as optimal seeds for modelling atrophy spread, showing the highest correlation ranking in both hemispheres. Overall, NDM applied on the intracellular volume fraction connectome yielded higher correlations relative to NDM applied on fractional anisotropy maps. The NDM implementation using the cross-sectional structural connectome is a valuable tool to predict patterns of atrophy and spreading of pathology in FTD clinical variants.
预测额颞叶痴呆(FTD)患者病理进展的能力对于早期诊断和靶向干预至关重要。在本研究中,我们使用病理传播的网络扩散模型(NDM),研究了FTD患者的网络脆弱性与萎缩纵向进展之间的关系。30例行为变异型FTD(bvFTD)、13例语义变异型原发性进行性失语(svPPA)、14例非流利变异型原发性进行性失语(nfvPPA)和12例语义行为变异型FTD(sbvFTD)患者接受了纵向T1加权MRI检查。50名年轻对照者(20 - 31岁)接受了多壳扩散MRI扫描。开发了一种NDM,将FTD病理进展模拟为从一个种子点通过健康结构连接组的传播过程,使用年轻对照者的分数各向异性和细胞内体积分数的连接性测量值。最初从每个FTD变异型的萎缩峰值中确定了四个疾病中心:左侧岛叶(bvFTD);左侧颞极(svPPA);右侧颞极(sbvFTD);左侧辅助运动区(nfvPPA)。计算了年轻对照者中NDM预测的萎缩与FTD患者在24个月随访期内观察到的纵向萎缩之间的Pearson相关性。然后对所有220个脑种子点运行NDM,以验证这四个中心是否在相关性最高的那些中心之中。使用NDM,年轻对照者的预测图谱显示了svPPA、nfvPPA和sbvFTD的萎缩峰值在24个月内的病理进展。svPPA早期累及左侧颞叶和枕叶,进展为广泛的左侧半球损伤。nfvPPA和sbvFTD以类似方式双侧扩散至额叶、感觉运动区和颞叶区域,sbvFTD还影响右侧半球。此外,NDM预测的每个区域的萎缩与纵向实际萎缩呈正相关,在svPPA和sbvFTD中影响更大。在bvFTD中,从左侧岛叶(萎缩峰值)开始的模型显示出高度左侧化的模式,病理扩散至额叶、感觉运动区、颞叶和基底神经节区域,到24个月时对侧半球的扩展最小。然而,与其他三种表型中观察到的萎缩峰值不同,左侧岛叶在估计萎缩与实际萎缩之间并未显示出最强的相关性。相反,双侧额上回成为模拟萎缩扩散的最佳种子点,在两个半球中均显示出最高的相关性排名。总体而言,应用于细胞内体积分数连接组的NDM相对于应用于分数各向异性图谱的NDM产生了更高的相关性。使用横断面结构连接组的NDM实现是预测FTD临床变异型萎缩模式和病理传播的有价值工具。