Department of Neurology, Barzilai University Medical Center, Ashkelon, Israel.
Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, Israel.
Acta Neurol Scand. 2022 Nov;146(5):586-589. doi: 10.1111/ane.13684. Epub 2022 Aug 16.
The largest cluster of genetic Creutzfeldt- Jakob Disease (CJD) exists in Libyan Jews carrying the E200K mutation in the PRNP gene. However, there is another cluster of genetic CJD with E200K mutation in families of Turkish-Jewish origin.
In this retrospective study, we aim to describe the demographic and clinical features of this population of patients.
The Israeli National CJD database was searched for demographic, clinical, imaging, and laboratory data of genetic CJD patients of Libyan and Turkish ancestry with the E200K mutation. The data of Libyan and Turkish patients were compared with notice similar or different demographic or clinical courses.
Four hundred and twenty-three patients with CJD of Libyan (L) ancestry and 27 patients with CJD of Turkish (T) ancestry were identified. There were no significant differences in demographic and clinical data between the two populations (age of onset: T = 62 ± 8.8, L = 60 ± 9.7; age of death: T = 63 ± 8.6, L = 61 ± 9.7; and disease duration: T = 7.8 ± 8.4 months, L = 9.6 ± 13.6 months). Rapidly progressive dementia was the most common presentation in both groups, followed by pure cerebellar onset. The levels of tau protein in CSF did not differ between groups (T = 1290 ± 397.6 pg/ml, L = 1276 ± 594.2 pg/ml). MRI and EEG showed classical CJD features in most patients in both groups.
The E200K mutation is the most common mutation among gCJD patients and was reported in different ethnical populations, suggesting several independent haplotypes of the mutation. The Turkish-Jew cluster, first described in this study, shares similar demographic and clinical features with the bigger cluster of Libyan-Jews CJD patients.
E200K gCJD patients of Turkish ancestry share similar demographic and clinical features to patients of Libyan descent, suggesting a common origin of both populations.
最大的克雅氏病（CJD）遗传簇存在于携带 PRNP 基因 E200K 突变的利比亚犹太人中。然而，在土耳其裔犹太人的家族中，还有另一个携带 E200K 突变的遗传 CJD 簇。
在这项回顾性研究中，我们旨在描述这一人群患者的人口统计学和临床特征。
在以色列国家 CJD 数据库中，检索了携带 E200K 突变的利比亚和土耳其裔遗传 CJD 患者的人口统计学、临床、影像学和实验室数据。将利比亚和土耳其患者的数据与具有相似或不同的人口统计学或临床病程的患者进行比较。
共发现 423 例利比亚（L）血统的 CJD 患者和 27 例土耳其（T）血统的 CJD 患者。这两个群体在人口统计学和临床数据方面没有显著差异（发病年龄：T = 62±8.8，L = 60±9.7；死亡年龄：T = 63±8.6，L = 61±9.7；疾病持续时间：T = 7.8±8.4 个月，L = 9.6±13.6 个月）。快速进行性痴呆是两组最常见的表现，其次是单纯小脑发病。两组 CSF 中 tau 蛋白水平无差异（T = 1290±397.6pg/ml，L = 1276±594.2pg/ml）。MRI 和 EEG 显示两组大多数患者均具有典型的 CJD 特征。
E200K 突变是 gCJD 患者中最常见的突变，已在不同种族人群中报道，提示该突变存在多个独立的单体型。本研究首次描述的土耳其裔犹太人集群与更大的利比亚裔犹太人 CJD 患者集群具有相似的人口统计学和临床特征。
携带 E200K 的土耳其裔 gCJD 患者与利比亚裔患者具有相似的人口统计学和临床特征，提示这两个群体可能具有共同的起源。
