Senem Iara, Foss Maria Paula, Lavigne-Moreira Carolina, Dos Santos Antonio Carlos, de França Nunes Renan Flávio, França Júnior Marcondes Cavalcante, Tomaselli Pedro Jose, Axelsson Jan, Wixner Jonas, Marques Wilson
Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Street 3900, Ribeirão Preto, São Paulo, Brazil.
Department of Medical Imaging, Hematology and Clinical Oncology, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirao Preto, 14040-900, SP, Brazil.
Neurol Sci. 2025 Mar;46(3):1349-1358. doi: 10.1007/s10072-024-07846-5. Epub 2024 Nov 5.
Central nervous system symptoms, such as cognitive dysfunction, have been reported in Hereditary Transthyretin Amyloidosis (ATTRv). However, there is a lack of neuroimaging studies investigating structural alterations in the brain related to cognition in ATTRv amyloidosis. This study aimed to investigate cognition and cortical morphology in a cohort of ATTRv patients.
29 ATTRv patients and 26 healthy controls completed neuropsychological assessment. 21 of these patients underwent 3T brain MRI, and 23 healthy subjects constituted the control group for MRI. Cortical measures of volume, thickness, fractional anisotropy (FA), and mean diffusivity (MD) were obtained for both groups. Correlation analyses between brain and cognitive measurements were performed.
Patients displayed worse performance than controls in executive functions, verbal and visual memory, visuospatial domains, and language tests. Our study indicated cortical thinning in ATTRv patients in the temporal, occipital, frontal, and parietal areas. The inferior temporal gyrus correlated with verbal memory. Insula and, pars opercularis correlated with both verbal memory and executive function.
Cortical thickness in the inferior temporal gyrus, pars opercularis, and insula were linked to memory and executive function. We observed no correlations between cortical volume measures and cognition. Further investigations are imperative to confirm these findings across different populations.
遗传性转甲状腺素蛋白淀粉样变性（ATTRv）患者中已报告出现中枢神经系统症状，如认知功能障碍。然而，缺乏关于ATTRv淀粉样变性中与认知相关的脑结构改变的神经影像学研究。本研究旨在调查一组ATTRv患者的认知和皮质形态。
29例ATTRv患者和26名健康对照完成了神经心理学评估。其中21例患者接受了3T脑部磁共振成像（MRI）检查，23名健康受试者构成MRI对照组。两组均获得了皮质体积、厚度、分数各向异性（FA）和平均扩散率（MD）的测量值。对脑部和认知测量结果进行了相关性分析。
患者在执行功能、言语和视觉记忆、视觉空间领域以及语言测试中的表现比对照组差。我们的研究表明，ATTRv患者颞叶、枕叶、额叶和顶叶区域的皮质变薄。颞下回与言语记忆相关。岛叶和岛盖部与言语记忆和执行功能均相关。
颞下回、岛盖部和岛叶的皮质厚度与记忆和执行功能有关。我们未观察到皮质体积测量值与认知之间存在相关性。必须进行进一步研究以在不同人群中证实这些发现。
