Kennedy James T, Wisch Julie K, Dincer Aylin, Roman June, Gordon Brian A, Handen Benjamin, Benzinger Tammie L S, Head Elizabeth, Mapstone Mark, Christian Bradley T, Tudorascu Dana L, Laymon Charles L, Hartley Sigan L, Lao Patrick, Brickman Adam M, Zaman Shahid H, Ances Beau M
Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Department of Radiology, Washington University School of Medicine, St. Louis, Missouri, USA.
Alzheimers Dement. 2025 Feb;21(2):e14519. doi: 10.1002/alz.14519. Epub 2025 Jan 14.
Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.
Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic). Cortical thickness and subcortical volumes were compared between DS groups and evaluated as a staging metric using receiver operating characteristic analyses. Thickness patterns were compared to those previously reported in autosomal-dominant AD (ADAD).
Decreased parietal and temporal lobe thickness differentiated amyloid positivity (area under the curve [AUC] = 0.83) and impairment (AUC = 0.81), and slightly outperformed subcortical volumes (AUC = 0.8/0.74). Thickness differences in DS were more widespread, severe, and had better discriminative ability than ADAD.
Cortical thickness can stage AD pathology in DS. Identification of brain regions affected by AD may aid in tracking disease course and evaluating treatment effects.
DSAD is associated with reduced temporal and parietal cortical thickness. DSAD is associated with smaller hippocampal and striatal volumes. Thickness differences can stage DSAD better than other forms of AD. DSAD thickness differences are more extensive and severe than ADAD.
唐氏综合征（DS）中的阿尔茨海默病（AD）与脑结构变化有关。尚不清楚厚度和体积变化是否能够识别AD阶段，以及它们是否与其他遗传形式的AD相似。
收集了178名DS成年人（106名非临床、45名临床前和27名有症状者）的磁共振成像扫描数据。比较了DS组之间的皮质厚度和皮质下体积，并使用受试者操作特征分析将其评估为分期指标。将厚度模式与先前在常染色体显性AD（ADAD）中报告的模式进行了比较。
顶叶和颞叶厚度降低可区分淀粉样蛋白阳性（曲线下面积[AUC]=0.83）和损伤（AUC=0.81），且略优于皮质下体积（AUC=0.8/0.74）。DS中的厚度差异比ADAD更广泛、更严重，且具有更好的辨别能力。
皮质厚度可对DS中的AD病理进行分期。识别受AD影响的脑区可能有助于追踪疾病进程和评估治疗效果。
DSAD与颞叶和顶叶皮质厚度降低有关。DSAD与海马体和纹状体体积较小有关。厚度差异对DSAD的分期比其他形式的AD更好。DSAD的厚度差异比ADAD更广泛、更严重。
