20.500.12556/RUL-164844 Metabolic brain changes can predict the underlying pathology in neurodegenerative brain disorders a case report of sporadic Creutzfeldt–Jakob disease with concomitant Parkinson’s disease The co-occurrence of multiple proteinopathies is being increasingly recognized in neurodegenerative disorders and poses a challenge in differential diagnosis and patient selection for clinical trials. Changes in brain metabolism captured by positron emission tomography (PET) with $^{18}$F-fluorodeoxyglucose (FDG) allow us to differentiate between different neurodegenerative disorders either by visual exploration or by studying disease-specific metabolic networks in individual patients. However, the impact of multiple proteinopathies on brain metabolism and metabolic networks remains unknown due to the absence of pathological studies. In this case study, we present a 67-year-old patient with rapidly progressing dementia clinically diagnosed with probable sporadic Creutzfeldt–Jakob disease (sCJD). However, in addition to the expected pronounced cortical and subcortical hypometabolism characteristic of sCJD, the brain FDG PET revealed an intriguing finding of unexpected relative hypermetabolism in the bilateral putamina, raising suspicions of coexisting Parkinson’s disease (PD). Additional investigation of disease-specific metabolic brain networks revealed elevated expression of both CJD-related pattern (CJDRP) and PD-related pattern (PDRP) networks. The patient eventually developed akinetic mutism and passed away seven weeks after symptom onset. Neuropathological examination confirmed neuropathological changes consistent with sCJD and the presence of Lewy bodies confirming PD pathology. Additionally, hyperphosphorylated tau and TDP-43 pathology were observed, a combination of four proteinopathies that had not been previously reported. Overall, this case provides valuable insights into the complex interplay of neurodegenerative pathologies and their impact on metabolic brain changes, emphasizing the role of metabolic brain imaging in evaluating potential presence of multiple proteinopathies. Creutzfeldt–Jakob disease Parkinson’s disease multiple co-proteinopathy FDG PET brain networks analysis true false true Angleški jezik Ni določen Članek v reviji 2024-11-13 14:40:04 2024-11-13 14:40:37 2024-11-22 14:56:21 0000-00-00 00:00:00 2023 0 0 8 str. iss. 17, art. 13081 Vol. 24 2023 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 61 1422-0067 10.3390/ijms241713081 162631171 ijms-24-13081.pdf ijms-24-13081.pdf 1 90518B57B345CED28B8D1D3B7025AD12 7c15fe7373b7932f7cfc38dfe16499bdef69c674b989e836a3a61d62bdd151d3 c157c9d3-a1c4-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=195612 https://www.mdpi.com/1422-0067/24/17/13081 1 80ce287d-a1c4-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=195611 Medicinska fakulteta 0 0 0