Fislage Marinus, Chen Chih-Hao, Cheng Yu-Wen, Chen Ya-Fang, Tang Sung-Chun
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Department of Anesthesiology and Operative Intensive Care Medicine (CCM, CVK), Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Cereb Circ Cogn Behav. 2024 Oct 9;7:100371. doi: 10.1016/j.cccb.2024.100371. eCollection 2024.
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) represents the most common heritable cause of vascular dementia. Subcortical volumes might be proxies of brain reserve capacity and reflective of cognitive function. We explored the impact of subcortical volumes on cognition in CADASIL patients.
We included 90 patients with pathogenic variants from the Taiwan Associated Genetic and Nongenetic Small Vessel Disease cohort. They underwent MRI sessions at baseline. The volumes of the putamen, caudate, pallidum, thalamus, cerebellum, cortical gray matter and brain parenchymal fraction (BPF) were calculated by using FreeSurfer. We tested the association of the subcortical volumes, cortical gray matter volume and BPF with scores of the Mini-mental state examination (MMSE), cognitive domains, and the diagnosis of vascular cognitive impairment (VCI) which was defined as MMSE score <24.
The thalamus and putamen were consistently associated with the MMSE (thalamus adjusted beta per SD decrement -1.41 [95 % CI -2.68-(-0.14)], = 0.03; R²=0.25; putamen -1.93 [95 % CI -2.99-(-0.86)], < 0.001; R²=0.36) and VCI (thalamus OR per SD-decrement 3.66 [95 % CI 1.38-9.72], = 0.009), putamen (OR 3.06 [95 % CI 1.21-7.73], = 0.02). A larger thalamus volume was also associated with better executive function and visuospatial perception. The cortical gray matter volume and the BPF showed associations with various cognitive outcomes in all analyses.
Although cortical gray matter volume and the BPF still appear to be robust markers of cognitive performance in CADASIL, the volumes of the thalamus and the putamen might also be promising regions of interest for future research.
大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）是血管性痴呆最常见的遗传病因。皮质下体积可能是脑储备能力的指标，并反映认知功能。我们探讨了皮质下体积对CADASIL患者认知的影响。
我们纳入了来自台湾相关遗传和非遗传小血管疾病队列的90例有病原体变异的患者。他们在基线时接受了MRI检查。使用FreeSurfer计算壳核、尾状核、苍白球、丘脑、小脑、皮质灰质和脑实质分数（BPF）的体积。我们测试了皮质下体积、皮质灰质体积和BPF与简易精神状态检查（MMSE）评分、认知领域以及血管性认知障碍（VCI）诊断（定义为MMSE评分<24）之间的关联。
丘脑和壳核与MMSE始终相关（丘脑每标准差下降的调整后β值为-1.41 [95%CI -2.68-(-0.14)]，P = 0.03；R² = 0.25；壳核为-1.93 [95%CI -2.99-(-0.86)]，P < 0.001；R² = 0.36）以及VCI（丘脑每标准差下降的OR值为3.66 [95%CI 1.38-9.72]，P = 0.009），壳核（OR值为3.06 [95%CI 1.21-7.73]，P = 0.02）。更大的丘脑体积也与更好的执行功能和视觉空间感知相关。在所有分析中，皮质灰质体积和BPF与各种认知结果相关。
尽管皮质灰质体积和BPF似乎仍然是CADASIL中认知表现的有力标志物，但丘脑和壳核的体积也可能是未来研究中很有前景的感兴趣区域。
