Human prion disease surveillance in Spain, 1993-2018: an overview

Pedro‐Cuesta, Jesús de; Almazán-Isla, Javier; Tejedor-Romero, Laura; Ruiz-Tovar, María; Avellanal, Fuencisla; Rábano, Alberto; Calero, Miguel; López, Fernando J. García

doi:10.1080/19336896.2021.1933873

Cited by 7 publications

(8 citation statements)

References 26 publications

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“…The prevalence of sporadic CJD (sCJD) is about 1 million/year worldwide, including in Israel, as reported in various national registries. [4][5][6][7][8][9] This figure is stable in time and similar in different populations with no known geographic or ethnic clusters of patients. No association was found to a specific diet or occupation of the patients.…”

Section: Introductionmentioning

confidence: 71%

Genetic Creutzfeldt‐Jakob disease in Turkish Jews—demographic and clinical features

Menendez

Milo

Cohen

et al. 2022

Acta Neuro Scandinavica

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Background: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. Aims:In this retrospective study, we aim to describe the demographic and clinical features of this population of patients. Material and Methods: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.Results: 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

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Section: Introductionmentioning

confidence: 71%

Genetic Creutzfeldt‐Jakob disease in Turkish Jews—demographic and clinical features

Menendez

Milo

Cohen

et al. 2022

Acta Neuro Scandinavica

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“…This feature fits recent proposals for conformational neurodegenerative disorders (NDDs), which suggest a causal link between genetic and sporadic forms ( de Pedro-Cuesta et al, 2016b ) and shared molecular mechanisms. In the case of TSEs, such a trait would imply that gTSE PrP might act as a transmission agent, a phenomenon suggested by the spatial clustering of high regional sTSE and gTSE incidences close to the Basque Country in Spain ( De Pedro-Cuesta et al, 2021 ). The higher sCJD survival in Taiwan, where only eight genetic cases have been described ( Sun et al, 2020 ) and particular genetic traits have been seen ( Wang et al, 2007 ), merits further study.…”

Section: Discussionmentioning

confidence: 99%

“…Accordingly, this study set out to analyze the survival and related factors of a TSE patient cohort, based on a nationwide surveillance system in Spain for 1993–2018 ( De Pedro-Cuesta et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Survival Patterns of Human Prion Diseases in Spain, 1998–2018: Clinical Phenotypes and Etiological Clues

et al. 2022

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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.

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“…Given the small number of cases and the high variability, they present at clinical, neuropathological and biochemical levels, reporting each case is important to get the whole picture of GSS and clearly define commonalities and differences between patients. Herein, we report the first GSS case with A117V pathogenic variant from a Spanish citizen and the sixth of all GSS cases found until now in the country [ 13 ]. From all GSS cases reported worldwide, A117V always associated with Valine polymorphism at position 129 is the second most common after P102L, with about 40 cases reported worldwide.…”

Section: Introductionmentioning

confidence: 99%

“…The 5 cases of GSS constitute 0.26% of all the cases of human TSE reported in the country during this period. This reflects the extremely low prevalence of this disease even among human TSE [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

Eraña

Millán²,

Díaz-Domínguez

et al. 2022

J Neurol

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Gerstmann–Sträussler–Scheinker disease (GSS) is a rare neurodegenerative illness that belongs to the group of hereditary or familial Transmissible Spongiform Encephalopathies (TSE). Due to the presence of different pathogenic alterations in the prion protein (PrP) coding gene, it shows an enhanced proneness to misfolding into its pathogenic isoform, leading to prion formation and propagation. This aberrantly folded protein is able to induce its conformation to the native counterparts forming amyloid fibrils and plaques partially resistant to protease degradation and showing neurotoxic properties. PrP with A117V pathogenic variant is the second most common genetic alteration leading to GSS and despite common phenotypic and neuropathological traits can be defined for each specific variant, strikingly heterogeneous manifestations have been reported for inter-familial cases bearing the same pathogenic variant or even within the same family. Given the scarcity of cases and their clinical, neuropathological, and biochemical variability, it is important to characterize thoroughly each reported case to establish potential correlations between clinical, neuropathological and biochemical hallmarks that could help to define disease subtypes. With that purpose in mind, this manuscript aims to provide a detailed report of the first Spanish GSS case associated with A117V variant including clinical, genetic, neuropathological and biochemical data, which could help define in the future potential disease subtypes and thus, explain the high heterogeneity observed in patients suffering from these maladies.

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Human prion disease surveillance in Spain, 1993-2018: an overview

Cited by 7 publications

References 26 publications

Genetic Creutzfeldt‐Jakob disease in Turkish Jews—demographic and clinical features

Genetic Creutzfeldt‐Jakob disease in Turkish Jews—demographic and clinical features

Survival Patterns of Human Prion Diseases in Spain, 1998–2018: Clinical Phenotypes and Etiological Clues

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

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