Thalamic-insomnia phenotype in E200K Creutzfeldt–Jakob disease: A PET/MRI study

Autor: Hong Ye, Min Chu, Zhongyun Chen, Kexin Xie, Li Liu, Haitian Nan, Yue Cui, Jing Zhang, Lin Wang, Junjie Li, Liyong Wu
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: NeuroImage: Clinical, Vol 35, Iss , Pp 103086- (2022)
Druh dokumentu: article
ISSN: 2213-1582
DOI: 10.1016/j.nicl.2022.103086
Popis: Background: Insomnia and thalamic involvement were frequently reported in patients with genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutations, suggesting E200K might have discrepancy with typical sporadic CJD (sCJD). The study aimed to explore the clinical and neuroimage characteristics of genetic E200K CJD patients by comprehensive neuroimage analysis. Methods: Six patients with gCJD carried E200K mutation on Prion Protein (PRNP) gene, 13 patients with sporadic CJD, and 22 age- and sex-matched normal controls were enrolled in the study. All participants completed a hybrid positron emission tomography/magnetic resonance imaging (PET/MRI) examination. Signal intensity on diffusion-weighted imaging (DWI) and metabolism on PET were visually rating analyzed, statistical parameter mapping analysis was performed on PET and 3D-T1 images. Clinical and imaging characteristics were compared between the E200K, sCJD, and control groups. Results: There was no group difference in age or gender among the E200K, sCJD, and control groups. Insomnia was a primary complaint in patients with E200K gCJD (4/2 versus 1/12, p = 0.007). Hyperintensity on DWI and hypometabolism on PET of the thalamus were observed during visual rating analysis of images in patients with E200K gCJD. Gray matter atrophy (uncorrected p
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