Liao Jiangfeng, Hu Wenming, Chen Shiheng, Huang Chunyu, Dong Senwei, Chen Wanjin, Chen Xiaochun, Chen Longfei
Department of Neurology and Institute of Neurology of the First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.
Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Front Aging Neurosci. 2024 Apr 9;16:1379011. doi: 10.3389/fnagi.2024.1379011. eCollection 2024.
As a rare neurodegenerative disease, sporadic Creutzfeldt-Jakob disease (sCJD) is poorly understood in the elderly populace. This study aims to enunciate the multidimensional features of sCJD in this group.
A case of probable sCJD was reported in a 90-year-old Chinese man with initial dizziness. Then, available English literature of the elderly sCJD cases (aged 80 years and over) was reviewed and analyzed. Patients (15 cases) were subdivided and compared geographically.
In the elderly sCJD cohort, the onset age was 84.9 ± 4.5 years and the median disease duration was 6.8 months, with respiratory infection/failure as the commonest death cause. Various clinical symptoms were identified, with cognitive disorder (86.7%) as the commonest typical symptom and speech impairment (66.7%) as the most atypical one. Restricted hyperintensities were reported in 60.0% cases on DWI, periodic sharp wave complexes in 73.3% cases on electroencephalogram, and cerebral hypoperfusion/hypometabolism in 26.7% cases on molecular imaging. The sensitive cerebrospinal fluid biomarkers were total tau (83.3%), 14-3-3 protein (75.0%), and PrP RT-QuIC (75.0%). Neuropathological profiles in the cerebral cortex revealed vacuolar spongiosis, neuronal loss, gliosis, and aging-related markers, with synaptic deposit as the commonest PrP pattern (60.0%). The polymorphic analysis at codon 129 was M/M (90.9%), with MM1 and MM2C as the primary molecular phenotypes. Latency to first clinic visit, hyperintense signals on DWI, and disease duration were significantly different between the patient subgroups.
The characteristics of sCJD are multidimensional in the elderly, deepening our understanding of the disease and facilitating an earlier recognition and better care for this group.
作为一种罕见的神经退行性疾病，散发性克雅氏病（sCJD）在老年人群中的情况尚不清楚。本研究旨在阐明该群体中sCJD的多维度特征。
报告了一例90岁中国男性可能患有sCJD的病例，其最初症状为头晕。然后，对现有的老年sCJD病例（80岁及以上）的英文文献进行了回顾和分析。将患者（15例）按地理区域进行细分和比较。
在老年sCJD队列中，发病年龄为84.9±4.5岁，疾病中位持续时间为6.8个月，呼吸道感染/衰竭是最常见的死亡原因。识别出了各种临床症状，认知障碍（86.7%）是最常见的典型症状，言语障碍（66.7%）是最不典型的症状。60.0%的病例在弥散加权成像（DWI）上显示受限高信号，73.3%的病例在脑电图上显示周期性尖锐波复合波，26.7%的病例在分子成像上显示脑灌注不足/代谢减低。脑脊液敏感生物标志物为总tau蛋白（83.3%）、14-3-3蛋白（75.0%）和朊蛋白实时荧光定量检测（PrP RT-QuIC，75.0%）。大脑皮质的神经病理学特征显示有空泡性海绵样变、神经元丢失、胶质细胞增生和衰老相关标志物，突触沉积是最常见的朊蛋白模式（60.0%）。密码子129的多态性分析显示为M/M（90.9%），MM1和MM2C是主要的分子表型。患者亚组之间首次就诊延迟、DWI上的高信号以及疾病持续时间存在显著差异。
老年sCJD的特征是多维度的，这加深了我们对该疾病的理解，并有助于对这一群体进行早期识别和更好的护理。
