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Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process

Prion diseases are a group of rare neurodegenerative conditions characterised by a high rate of progression and highly heterogeneous phenotypes. Whilst the most common form of prion disease occurs sporadically (sporadic Creutzfeldt–Jakob disease, sCJD), other forms are caused by prion protein gene m...

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Autores principales: Canas, Liane S., Sudre, Carole H., De Vita, Enrico, Nihat, Akin, Mok, Tze How, Slattery, Catherine F., Paterson, Ross W., Foulkes, Alexander J.M., Hyare, Harpreet, Cardoso, M. Jorge, Thornton, John, Schott, Jonathan M., Barkhof, Frederik, Collinge, John, Ourselin, Sébastien, Mead, Simon, Modat, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978211/
https://www.ncbi.nlm.nih.gov/pubmed/31734530
http://dx.doi.org/10.1016/j.nicl.2019.102051
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author Canas, Liane S.
Sudre, Carole H.
De Vita, Enrico
Nihat, Akin
Mok, Tze How
Slattery, Catherine F.
Paterson, Ross W.
Foulkes, Alexander J.M.
Hyare, Harpreet
Cardoso, M. Jorge
Thornton, John
Schott, Jonathan M.
Barkhof, Frederik
Collinge, John
Ourselin, Sébastien
Mead, Simon
Modat, Marc
author_facet Canas, Liane S.
Sudre, Carole H.
De Vita, Enrico
Nihat, Akin
Mok, Tze How
Slattery, Catherine F.
Paterson, Ross W.
Foulkes, Alexander J.M.
Hyare, Harpreet
Cardoso, M. Jorge
Thornton, John
Schott, Jonathan M.
Barkhof, Frederik
Collinge, John
Ourselin, Sébastien
Mead, Simon
Modat, Marc
author_sort Canas, Liane S.
collection PubMed
description Prion diseases are a group of rare neurodegenerative conditions characterised by a high rate of progression and highly heterogeneous phenotypes. Whilst the most common form of prion disease occurs sporadically (sporadic Creutzfeldt–Jakob disease, sCJD), other forms are caused by prion protein gene mutations, or exposure to prions in the diet or by medical procedures, such us surgeries. To date, there are no accurate quantitative imaging biomarkers that can be used to predict the future clinical diagnosis of a healthy subject, or to quantify the progression of symptoms over time. Besides, CJD is commonly mistaken for other forms of dementia. Due to the heterogeneity of phenotypes and the lack of a consistent geometrical pattern of disease progression, the approaches used to study other types of neurodegenerative diseases are not satisfactory to capture the progression of human form of prion disease. In this paper, using a tailored framework, we aim to classify and stratify patients with prion disease, according to the severity of their illness. The framework is initialised with the extraction of subject-specific imaging biomarkers. The extracted biomakers are then combined with genetic and demographic information within a Gaussian Process classifier, used to calculate the probability of a subject to be diagnosed with prion disease in the next year. We evaluate the effectiveness of the proposed method in a cohort of patients with inherited and sporadic forms of prion disease. The model has shown to be effective in the prediction of both inherited CJD (92% of accuracy) and sporadic CJD (95% of accuracy). However the model has shown to be less effective when used to stratify the different stages of the disease, in which the average accuracy is 85%, whilst the recall is 59%. Finally, our framework was extended as a differential diagnosis tool to identify both forms of CJD among another neurodegenerative disease. In summary we have developed a novel method for prion disease diagnosis and prediction of clinical onset using multiple sources of features, which may have use in other disorders with heterogeneous imaging features.
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spelling pubmed-69782112020-01-28 Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process Canas, Liane S. Sudre, Carole H. De Vita, Enrico Nihat, Akin Mok, Tze How Slattery, Catherine F. Paterson, Ross W. Foulkes, Alexander J.M. Hyare, Harpreet Cardoso, M. Jorge Thornton, John Schott, Jonathan M. Barkhof, Frederik Collinge, John Ourselin, Sébastien Mead, Simon Modat, Marc Neuroimage Clin Regular Article Prion diseases are a group of rare neurodegenerative conditions characterised by a high rate of progression and highly heterogeneous phenotypes. Whilst the most common form of prion disease occurs sporadically (sporadic Creutzfeldt–Jakob disease, sCJD), other forms are caused by prion protein gene mutations, or exposure to prions in the diet or by medical procedures, such us surgeries. To date, there are no accurate quantitative imaging biomarkers that can be used to predict the future clinical diagnosis of a healthy subject, or to quantify the progression of symptoms over time. Besides, CJD is commonly mistaken for other forms of dementia. Due to the heterogeneity of phenotypes and the lack of a consistent geometrical pattern of disease progression, the approaches used to study other types of neurodegenerative diseases are not satisfactory to capture the progression of human form of prion disease. In this paper, using a tailored framework, we aim to classify and stratify patients with prion disease, according to the severity of their illness. The framework is initialised with the extraction of subject-specific imaging biomarkers. The extracted biomakers are then combined with genetic and demographic information within a Gaussian Process classifier, used to calculate the probability of a subject to be diagnosed with prion disease in the next year. We evaluate the effectiveness of the proposed method in a cohort of patients with inherited and sporadic forms of prion disease. The model has shown to be effective in the prediction of both inherited CJD (92% of accuracy) and sporadic CJD (95% of accuracy). However the model has shown to be less effective when used to stratify the different stages of the disease, in which the average accuracy is 85%, whilst the recall is 59%. Finally, our framework was extended as a differential diagnosis tool to identify both forms of CJD among another neurodegenerative disease. In summary we have developed a novel method for prion disease diagnosis and prediction of clinical onset using multiple sources of features, which may have use in other disorders with heterogeneous imaging features. Elsevier 2019-10-25 /pmc/articles/PMC6978211/ /pubmed/31734530 http://dx.doi.org/10.1016/j.nicl.2019.102051 Text en © 2019 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Regular Article
Canas, Liane S.
Sudre, Carole H.
De Vita, Enrico
Nihat, Akin
Mok, Tze How
Slattery, Catherine F.
Paterson, Ross W.
Foulkes, Alexander J.M.
Hyare, Harpreet
Cardoso, M. Jorge
Thornton, John
Schott, Jonathan M.
Barkhof, Frederik
Collinge, John
Ourselin, Sébastien
Mead, Simon
Modat, Marc
Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process
title Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process
title_full Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process
title_fullStr Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process
title_full_unstemmed Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process
title_short Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process
title_sort prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel gaussian process
topic Regular Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978211/
https://www.ncbi.nlm.nih.gov/pubmed/31734530
http://dx.doi.org/10.1016/j.nicl.2019.102051
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