Abstract
BackgroundHuman transmissible spongiform encephalopathies (TSEs) are a group of fatal neurodegenerative disorders of short duration. There are few studies on TSE survival. This study sought to analyze the survival and related factors of a TSE patient cohort, based on a nationwide surveillance system in Spain.MethodsSurvival analyses were performed on 1,530 cases diagnosed across the period 1998–2018 in Spain. We calculated median survival times and plotted survival curves using the Kaplan–Meier method for all cases and for sporadic TSE (sTSE) and genetic TSE (gTSE). Crude and adjusted Cox proportional hazard models were used to identify variables associated with shorter survival.FindingsMedian age at onset decreased from the sporadic forms to gTSE and, lastly, to acquired TSE. Overall median and interquartile range (IQR) survival time was 5.2 (IQR, 3.0–11.7) months and 4.9 (IQR, 2.8–10.8) months in sporadic cases and 9 (IQR, 4.9 to over 12) months in genetic cases, p < 0.001. Male sex, older age at onset, presence of 14-3-3 protein, typical MRI, and MM and VV polymorphisms at codon 129 were associated with shorter survival. gTSE showed higher survival in crude comparisons but not after adjustment.InterpretationTSE survival in Spain replicates both the magnitude of that shown and the TSE entity-specific population patterns observed in Western countries but differs from features described in Asian populations, such as the Japanese. The reduction in differences in survival between gTSE and sTSE on adjusting for covariates and international patterns might support the view that gTSE and sTSE share causal and pathophysiological features.
Highlights
Human transmissible spongiform encephalopathies (TSEs) are a group of fatal neurodegenerative disorders caused by the abnormal disease-causing isoform (PrPSc) of a normal cellular protein, i.e., the cellular prion protein (PrPC) (Prusiner, 1998)
85–90% are sporadic Creutzfeldt–Jakob disease cases, 10–15% are inherited or genetic TSE [gTSE, including genetic Creutzfeldt–Jakob disease, Gerstmann–Sträussler–Scheinker syndrome (GSS), or Fatal Familial Insomnia (FFI)], and less than 1% are acquired forms, either variant Creutzfeldt–Jakob disease or accidentally transmitted Creutzfeldt–Jakob disease. vCJD is the only known zoonotic form of human prion disease and occurs through consumption of bovine tissues affected by bovine spongiform encephalopathy (BSE) and BSE-tainted blood transfusions (Geschwind, 2015). atCJD may appear as a consequence of treatment with human-derived growth hormone or gonadotropins and several homografts (Brown et al, 1992)
In more than 90% of cases, valuable data for study purposes were available for type of TSE, sex, EEG, and year of diagnosis
Summary
Human transmissible spongiform encephalopathies (TSEs) are a group of fatal neurodegenerative disorders caused by the abnormal disease-causing isoform (PrPSc) of a normal cellular protein, i.e., the cellular prion protein (PrPC) (Prusiner, 1998). 85–90% are sporadic Creutzfeldt–Jakob disease (sCJD) cases, 10–15% are inherited or genetic TSE [gTSE, including genetic Creutzfeldt–Jakob disease (gCJD), Gerstmann–Sträussler–Scheinker syndrome (GSS), or Fatal Familial Insomnia (FFI)], and less than 1% are acquired forms, either variant Creutzfeldt–Jakob disease (vCJD) or accidentally transmitted Creutzfeldt–Jakob disease (atCJD). VCJD is the only known zoonotic form of human prion disease and occurs through consumption of bovine tissues affected by bovine spongiform encephalopathy (BSE) and BSE-tainted blood transfusions (Geschwind, 2015). Human transmissible spongiform encephalopathies (TSEs) are a group of fatal neurodegenerative disorders of short duration. This study sought to analyze the survival and related factors of a TSE patient cohort, based on a nationwide surveillance system in Spain
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