Li Xudong, Chen Qidong, Zou Xinying, Shen Miaoxin, Han Ziling
Department of Cognitive Disorder, Beijing Tiantan Hospital, Capital Medical University, Fengtai District, South 4th Ring Road West 119, Beijing, 100070, China.
China National Clinical Research Center for Neurological Diseases, Beijing, China.
Acta Neurol Belg. 2025 Apr;125(2):369-376. doi: 10.1007/s13760-024-02698-4. Epub 2024 Dec 14.
Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder with a fatal outcome. The present study investigated the difference on demographic, clinical and laboratory data between the patients with sporadic CJD (sCJD) and genetic CJD (gCJD).
Thirty-eight patients with CJD were enrolled in this study, including 28 patients with sCJD and 10 patients with gCJD. All patients were administered cognitive tests, brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid (CSF) 14-3-3 protein.
The patients with sCJD had similar onset age, mean death and survival time to the patients with gCJD. There were slightly more males in the patients with sCJD than in the patients with gCJD (p = 0.095). The percentages of onset symptoms were similar between sCJD and gCJD groups. Patients with sCJD had more parkinsonism than patients with gCJD on neurological examinations (p = 0.037). The patients with gCJD also had slightly more disinhibitation than the patients with sCJD (p = 0.090). There were similar abnormalities percentages on MRI, EEG, and CSF 14-3-3 protein. The gCJD patients had more widespread cortex abnormalities involving the frontal, temporal, parietal and occipital lobe, compared with the sCJD patients (p = 0.012).
The patients with sCJD had similar epidemiological and clinical characteristics to the patients with gCJD, except more parkinsonism signs and less widespread cortex abnormalities on MRI.
克雅氏病（CJD）是一种可传播的神经退行性疾病，预后 fatal。本研究调查了散发性克雅氏病（sCJD）患者与遗传性克雅氏病（gCJD）患者在人口统计学、临床和实验室数据方面的差异。
本研究纳入了38例克雅氏病患者，其中28例为sCJD患者，10例为gCJD患者。所有患者均接受了认知测试、脑磁共振成像（MRI）、脑电图（EEG）、脑脊液（CSF）14-3-3蛋白检测。
sCJD患者的发病年龄、平均死亡和生存时间与gCJD患者相似。sCJD患者中的男性略多于gCJD患者（p = 0.095）。sCJD和gCJD组的起病症状百分比相似。在神经系统检查中，sCJD患者的帕金森症比gCJD患者更多（p = 0.037）。gCJD患者的去抑制症状也略多于sCJD患者（p = 0.090）。MRI、EEG和CSF 14-3-3蛋白的异常百分比相似。与sCJD患者相比，gCJD患者的皮质异常更广泛，累及额叶、颞叶、顶叶和枕叶（p = 0.012）。
sCJD患者与gCJD患者具有相似的流行病学和临床特征，除了帕金森症体征更多，且MRI上皮质异常范围较小。
