Molecular genetics and metabolism · 2025
Brain morphometric analysis in patients with glutaric aciduria type 1.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Bian BingYang, Liu ChengXiang, Zhang Lei, Tian Pu, Liu ZhuoHang, Zhu XiaoNa, Liu Peng, Li Dan
Аннотация
PURPOSE: Cerebral structural changes in both cortical and subcortical regions were detected in the pathology of glutaric aciduria type 1 (GA-1) patients. Conventional magnetic resonance imaging was limited by radiologist-inter variability in evaluating its severity. This cross-sectional study aimed to identify the affected brain structures and their functional correlations within the cortical and subcortical regions of patients with GA-1.
METHODS: Seventeen patients with GA-1 and 17 healthy controls (HCs) were included (mean age, 38 ± 17 months; both groups contained 6 males). Three-dimensional T1-weighted imaging data were acquired, and voxel and surface-based morphometry were used to quantitatively investigate differences in gray matter volume (GMV) and cortical thickness (CT). Two-sample t-tests were performed.
RESULTS: Patients with GA-1 had lower GMV in the bilateral basal ganglia, thalamus, limbic system, default mode network, and right cerebellum, as well as lower CT in the bilateral insula, lateral occipital cortex, right inferior parietal cortex, inferior temporal gyrus, and posterior cingulate cortex than HCs. Patients with GA-1 had higher CT in the bilateral lingual gyrus, parahippocampal gyrus, superior frontal gyrus, left postcentral gyrus, right precuneus, precentral gyrus, middle temporal gyrus, and inferior temporal gyrus than HCs. In patients with GA-1, urinary glutaryl-carnitine levels were significantly negatively correlated with the GMV in the left inferior temporal gyrus.
CONCLUSION: Our brain morphological analyses revealed quantitative differences in the GMV and CT of GA-1 patients compared to HCs and provided useful information about normal and abnormal neuroanatomy.
METHODS: Seventeen patients with GA-1 and 17 healthy controls (HCs) were included (mean age, 38 ± 17 months; both groups contained 6 males). Three-dimensional T1-weighted imaging data were acquired, and voxel and surface-based morphometry were used to quantitatively investigate differences in gray matter volume (GMV) and cortical thickness (CT). Two-sample t-tests were performed.
RESULTS: Patients with GA-1 had lower GMV in the bilateral basal ganglia, thalamus, limbic system, default mode network, and right cerebellum, as well as lower CT in the bilateral insula, lateral occipital cortex, right inferior parietal cortex, inferior temporal gyrus, and posterior cingulate cortex than HCs. Patients with GA-1 had higher CT in the bilateral lingual gyrus, parahippocampal gyrus, superior frontal gyrus, left postcentral gyrus, right precuneus, precentral gyrus, middle temporal gyrus, and inferior temporal gyrus than HCs. In patients with GA-1, urinary glutaryl-carnitine levels were significantly negatively correlated with the GMV in the left inferior temporal gyrus.
CONCLUSION: Our brain morphological analyses revealed quantitative differences in the GMV and CT of GA-1 patients compared to HCs and provided useful information about normal and abnormal neuroanatomy.