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Článek

Disentangling Neurodegeneration From Aging in Multiple Sclerosis Using Deep Learning: The Brain-Predicted Disease Duration Gap

Pontillo, Giuseppe
Autor Pontillo, Giuseppe ORCID From the Queen Square Multiple Sclerosis Centre (G.P., F.P., J.C., B.K., O.A.-M., S.A.-A., A. Bianchi, W.J.B., R. Christensen, E.C., S. Collorone, M.A.F., Y.H., A.H., S. Mohamud, R.N., A.T.T., J.W., C.Y., O.C., F.B.), Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, United Kingdom MS Center Amsterdam (G.P., H.V., F.B.), Radiology and Nuclear Medicine, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Departments of Advanced Biomedical Sciences and Electrical Engineering and Information Technology (G.P., A. Brunetti, S. Cocozza), University of Naples "Federico II," Italy Centre for Medical Image Computing (F.P., B.K., F.B.), Department of Medical Physics and Biomedical Engineering, University College London, United Kingdom E-Health Center (F.P.), Universitat Oberta de Catalunya, Barcelona, Spain Institute of Neuroradiology (B.B., C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Department of Advanced Medical and Surgical Sciences (A. Bisecco, A.G.), University of Campania "Luigi Vanvitelli," Naples, Italy Translational Imaging in Neurology (ThINK) Basel (A.C., C. Granziera), Department of Biomedical Engineering, Faculty of Medicine, University Hospital Basel, University of Basel Neurologic Clinic and Policlinic (A.C., C. Granziera, J.K.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Switzerland Department of Neurosciences, Biomedicine and Movement Sciences (M. Calabrese, M. Castellaro), University of Verona Department of Information Engineering (M. Castellaro), University of Padova Department of Medicine, Surgery and Neuroscience (R. Cortese, N.D.S.), University of Siena, Italy Department of Neurology (C.E., D.P.), Medical University of Graz, Austria Neuroimaging Research Unit (M.F., M.A.R., P.V.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Neurology Unit, Neurorehabilitation Unit, Neurophysiology Service, IRCCS San Raffaele Scientific Institute Vita-Salute San Raffaele University (M.F., M.A.R., P.V.), Milan Department of Neurosciences (C. Gasperini, S.R.), San Camillo-Forlanini Hospital, Rome, Italy Department of Neurology (G.G.-E., S.G.), Focus Program Translational Neuroscience (FTN) and Immunotherapy (FZI), Rhine Main Neuroscience Network (rmn2), University Medical Center of the Johannes Gutenberg University Mainz, Germany Department of Neurology (H.F.F.H., E.A.H., G.O.N.), Oslo University Hospital Institute of Clinical Medicine (H.F.F.H., E.A.H., G.O.N.), and Department of Psychology (E.A.H.), University of Oslo, Norway Neuroimmunology and Multiple Sclerosis Unit Laboratory of Advanced Imaging in Neuroimmunological Diseases (ImaginEM) (S.L., E.M.-H.), Hospital Clinic Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Su, Barcelona, Spain Department of Neurology (C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Nuffield Department of Clinical Neurosciences (S. Messina, J.P.), University of Oxford, United Kingdom Department of Molecular Medicine and Medical Biotechnology (M.M.), and Department of Neurosciences and Reproductive and Odontostomatological Sciences (M.P.), University of Naples "Federico II" Department of Human Neurosciences (M.P.), Sapienza University of Rome, Italy Section of Neuroradiology (A.R.), Department of Radiology, and Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (J.S.-G.), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain MS Center Amsterdam (E.M.M.S.), Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Department of Neurology and Center of Clinical Neuroscience (T.U.), and Department of Radiology (M.V.), First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic MS Center Amsterdam (M.M.S.), Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Centre for Medical Image Computing (J.H.C.), Department of Computer Science, and Dementia Research Centre (J.H.C., F.B.), UCL Queen Square Institute of Neurology, University College London, United Kingdom
Prados, Ferran
Autor Prados, Ferran ORCID From the Queen Square Multiple Sclerosis Centre (G.P., F.P., J.C., B.K., O.A.-M., S.A.-A., A. Bianchi, W.J.B., R. Christensen, E.C., S. Collorone, M.A.F., Y.H., A.H., S. Mohamud, R.N., A.T.T., J.W., C.Y., O.C., F.B.), Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, United Kingdom MS Center Amsterdam (G.P., H.V., F.B.), Radiology and Nuclear Medicine, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Departments of Advanced Biomedical Sciences and Electrical Engineering and Information Technology (G.P., A. Brunetti, S. Cocozza), University of Naples "Federico II," Italy Centre for Medical Image Computing (F.P., B.K., F.B.), Department of Medical Physics and Biomedical Engineering, University College London, United Kingdom E-Health Center (F.P.), Universitat Oberta de Catalunya, Barcelona, Spain Institute of Neuroradiology (B.B., C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Department of Advanced Medical and Surgical Sciences (A. Bisecco, A.G.), University of Campania "Luigi Vanvitelli," Naples, Italy Translational Imaging in Neurology (ThINK) Basel (A.C., C. Granziera), Department of Biomedical Engineering, Faculty of Medicine, University Hospital Basel, University of Basel Neurologic Clinic and Policlinic (A.C., C. Granziera, J.K.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Switzerland Department of Neurosciences, Biomedicine and Movement Sciences (M. Calabrese, M. Castellaro), University of Verona Department of Information Engineering (M. Castellaro), University of Padova Department of Medicine, Surgery and Neuroscience (R. Cortese, N.D.S.), University of Siena, Italy Department of Neurology (C.E., D.P.), Medical University of Graz, Austria Neuroimaging Research Unit (M.F., M.A.R., P.V.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Neurology Unit, Neurorehabilitation Unit, Neurophysiology Service, IRCCS San Raffaele Scientific Institute Vita-Salute San Raffaele University (M.F., M.A.R., P.V.), Milan Department of Neurosciences (C. Gasperini, S.R.), San Camillo-Forlanini Hospital, Rome, Italy Department of Neurology (G.G.-E., S.G.), Focus Program Translational Neuroscience (FTN) and Immunotherapy (FZI), Rhine Main Neuroscience Network (rmn2), University Medical Center of the Johannes Gutenberg University Mainz, Germany Department of Neurology (H.F.F.H., E.A.H., G.O.N.), Oslo University Hospital Institute of Clinical Medicine (H.F.F.H., E.A.H., G.O.N.), and Department of Psychology (E.A.H.), University of Oslo, Norway Neuroimmunology and Multiple Sclerosis Unit Laboratory of Advanced Imaging in Neuroimmunological Diseases (ImaginEM) (S.L., E.M.-H.), Hospital Clinic Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Su, Barcelona, Spain Department of Neurology (C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Nuffield Department of Clinical Neurosciences (S. Messina, J.P.), University of Oxford, United Kingdom Department of Molecular Medicine and Medical Biotechnology (M.M.), and Department of Neurosciences and Reproductive and Odontostomatological Sciences (M.P.), University of Naples "Federico II" Department of Human Neurosciences (M.P.), Sapienza University of Rome, Italy Section of Neuroradiology (A.R.), Department of Radiology, and Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (J.S.-G.), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain MS Center Amsterdam (E.M.M.S.), Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Department of Neurology and Center of Clinical Neuroscience (T.U.), and Department of Radiology (M.V.), First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic MS Center Amsterdam (M.M.S.), Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Centre for Medical Image Computing (J.H.C.), Department of Computer Science, and Dementia Research Centre (J.H.C., F.B.), UCL Queen Square Institute of Neurology, University College London, United Kingdom
Colman, Jordan
Autor Colman, Jordan From the Queen Square Multiple Sclerosis Centre (G.P., F.P., J.C., B.K., O.A.-M., S.A.-A., A. Bianchi, W.J.B., R. Christensen, E.C., S. Collorone, M.A.F., Y.H., A.H., S. Mohamud, R.N., A.T.T., J.W., C.Y., O.C., F.B.), Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, United Kingdom MS Center Amsterdam (G.P., H.V., F.B.), Radiology and Nuclear Medicine, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Departments of Advanced Biomedical Sciences and Electrical Engineering and Information Technology (G.P., A. Brunetti, S. Cocozza), University of Naples "Federico II," Italy Centre for Medical Image Computing (F.P., B.K., F.B.), Department of Medical Physics and Biomedical Engineering, University College London, United Kingdom E-Health Center (F.P.), Universitat Oberta de Catalunya, Barcelona, Spain Institute of Neuroradiology (B.B., C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Department of Advanced Medical and Surgical Sciences (A. Bisecco, A.G.), University of Campania "Luigi Vanvitelli," Naples, Italy Translational Imaging in Neurology (ThINK) Basel (A.C., C. Granziera), Department of Biomedical Engineering, Faculty of Medicine, University Hospital Basel, University of Basel Neurologic Clinic and Policlinic (A.C., C. Granziera, J.K.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Switzerland Department of Neurosciences, Biomedicine and Movement Sciences (M. Calabrese, M. Castellaro), University of Verona Department of Information Engineering (M. Castellaro), University of Padova Department of Medicine, Surgery and Neuroscience (R. Cortese, N.D.S.), University of Siena, Italy Department of Neurology (C.E., D.P.), Medical University of Graz, Austria Neuroimaging Research Unit (M.F., M.A.R., P.V.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Neurology Unit, Neurorehabilitation Unit, Neurophysiology Service, IRCCS San Raffaele Scientific Institute Vita-Salute San Raffaele University (M.F., M.A.R., P.V.), Milan Department of Neurosciences (C. Gasperini, S.R.), San Camillo-Forlanini Hospital, Rome, Italy Department of Neurology (G.G.-E., S.G.), Focus Program Translational Neuroscience (FTN) and Immunotherapy (FZI), Rhine Main Neuroscience Network (rmn2), University Medical Center of the Johannes Gutenberg University Mainz, Germany Department of Neurology (H.F.F.H., E.A.H., G.O.N.), Oslo University Hospital Institute of Clinical Medicine (H.F.F.H., E.A.H., G.O.N.), and Department of Psychology (E.A.H.), University of Oslo, Norway Neuroimmunology and Multiple Sclerosis Unit Laboratory of Advanced Imaging in Neuroimmunological Diseases (ImaginEM) (S.L., E.M.-H.), Hospital Clinic Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Su, Barcelona, Spain Department of Neurology (C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Nuffield Department of Clinical Neurosciences (S. Messina, J.P.), University of Oxford, United Kingdom Department of Molecular Medicine and Medical Biotechnology (M.M.), and Department of Neurosciences and Reproductive and Odontostomatological Sciences (M.P.), University of Naples "Federico II" Department of Human Neurosciences (M.P.), Sapienza University of Rome, Italy Section of Neuroradiology (A.R.), Department of Radiology, and Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (J.S.-G.), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain MS Center Amsterdam (E.M.M.S.), Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Department of Neurology and Center of Clinical Neuroscience (T.U.), and Department of Radiology (M.V.), First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic MS Center Amsterdam (M.M.S.), Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Centre for Medical Image Computing (J.H.C.), Department of Computer Science, and Dementia Research Centre (J.H.C., F.B.), UCL Queen Square Institute of Neurology, University College London, United Kingdom
Kanber, Baris
Autor Kanber, Baris From the Queen Square Multiple Sclerosis Centre (G.P., F.P., J.C., B.K., O.A.-M., S.A.-A., A. Bianchi, W.J.B., R. Christensen, E.C., S. Collorone, M.A.F., Y.H., A.H., S. Mohamud, R.N., A.T.T., J.W., C.Y., O.C., F.B.), Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, United Kingdom MS Center Amsterdam (G.P., H.V., F.B.), Radiology and Nuclear Medicine, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Departments of Advanced Biomedical Sciences and Electrical Engineering and Information Technology (G.P., A. Brunetti, S. Cocozza), University of Naples "Federico II," Italy Centre for Medical Image Computing (F.P., B.K., F.B.), Department of Medical Physics and Biomedical Engineering, University College London, United Kingdom E-Health Center (F.P.), Universitat Oberta de Catalunya, Barcelona, Spain Institute of Neuroradiology (B.B., C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Department of Advanced Medical and Surgical Sciences (A. Bisecco, A.G.), University of Campania "Luigi Vanvitelli," Naples, Italy Translational Imaging in Neurology (ThINK) Basel (A.C., C. Granziera), Department of Biomedical Engineering, Faculty of Medicine, University Hospital Basel, University of Basel Neurologic Clinic and Policlinic (A.C., C. Granziera, J.K.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Switzerland Department of Neurosciences, Biomedicine and Movement Sciences (M. Calabrese, M. Castellaro), University of Verona Department of Information Engineering (M. Castellaro), University of Padova Department of Medicine, Surgery and Neuroscience (R. Cortese, N.D.S.), University of Siena, Italy Department of Neurology (C.E., D.P.), Medical University of Graz, Austria Neuroimaging Research Unit (M.F., M.A.R., P.V.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Neurology Unit, Neurorehabilitation Unit, Neurophysiology Service, IRCCS San Raffaele Scientific Institute Vita-Salute San Raffaele University (M.F., M.A.R., P.V.), Milan Department of Neurosciences (C. Gasperini, S.R.), San Camillo-Forlanini Hospital, Rome, Italy Department of Neurology (G.G.-E., S.G.), Focus Program Translational Neuroscience (FTN) and Immunotherapy (FZI), Rhine Main Neuroscience Network (rmn2), University Medical Center of the Johannes Gutenberg University Mainz, Germany Department of Neurology (H.F.F.H., E.A.H., G.O.N.), Oslo University Hospital Institute of Clinical Medicine (H.F.F.H., E.A.H., G.O.N.), and Department of Psychology (E.A.H.), University of Oslo, Norway Neuroimmunology and Multiple Sclerosis Unit Laboratory of Advanced Imaging in Neuroimmunological Diseases (ImaginEM) (S.L., E.M.-H.), Hospital Clinic Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Su, Barcelona, Spain Department of Neurology (C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Nuffield Department of Clinical Neurosciences (S. Messina, J.P.), University of Oxford, United Kingdom Department of Molecular Medicine and Medical Biotechnology (M.M.), and Department of Neurosciences and Reproductive and Odontostomatological Sciences (M.P.), University of Naples "Federico II" Department of Human Neurosciences (M.P.), Sapienza University of Rome, Italy Section of Neuroradiology (A.R.), Department of Radiology, and Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (J.S.-G.), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain MS Center Amsterdam (E.M.M.S.), Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Department of Neurology and Center of Clinical Neuroscience (T.U.), and Department of Radiology (M.V.), First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic MS Center Amsterdam (M.M.S.), Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Centre for Medical Image Computing (J.H.C.), Department of Computer Science, and Dementia Research Centre (J.H.C., F.B.), UCL Queen Square Institute of Neurology, University College London, United Kingdom
Abdel-Mannan, Omar
Autor Abdel-Mannan, Omar ORCID From the Queen Square Multiple Sclerosis Centre (G.P., F.P., J.C., B.K., O.A.-M., S.A.-A., A. Bianchi, W.J.B., R. Christensen, E.C., S. Collorone, M.A.F., Y.H., A.H., S. Mohamud, R.N., A.T.T., J.W., C.Y., O.C., F.B.), Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, United Kingdom MS Center Amsterdam (G.P., H.V., F.B.), Radiology and Nuclear Medicine, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Departments of Advanced Biomedical Sciences and Electrical Engineering and Information Technology (G.P., A. Brunetti, S. Cocozza), University of Naples "Federico II," Italy Centre for Medical Image Computing (F.P., B.K., F.B.), Department of Medical Physics and Biomedical Engineering, University College London, United Kingdom E-Health Center (F.P.), Universitat Oberta de Catalunya, Barcelona, Spain Institute of Neuroradiology (B.B., C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Department of Advanced Medical and Surgical Sciences (A. Bisecco, A.G.), University of Campania "Luigi Vanvitelli," Naples, Italy Translational Imaging in Neurology (ThINK) Basel (A.C., C. Granziera), Department of Biomedical Engineering, Faculty of Medicine, University Hospital Basel, University of Basel Neurologic Clinic and Policlinic (A.C., C. Granziera, J.K.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Switzerland Department of Neurosciences, Biomedicine and Movement Sciences (M. Calabrese, M. Castellaro), University of Verona Department of Information Engineering (M. Castellaro), University of Padova Department of Medicine, Surgery and Neuroscience (R. Cortese, N.D.S.), University of Siena, Italy Department of Neurology (C.E., D.P.), Medical University of Graz, Austria Neuroimaging Research Unit (M.F., M.A.R., P.V.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Neurology Unit, Neurorehabilitation Unit, Neurophysiology Service, IRCCS San Raffaele Scientific Institute Vita-Salute San Raffaele University (M.F., M.A.R., P.V.), Milan Department of Neurosciences (C. Gasperini, S.R.), San Camillo-Forlanini Hospital, Rome, Italy Department of Neurology (G.G.-E., S.G.), Focus Program Translational Neuroscience (FTN) and Immunotherapy (FZI), Rhine Main Neuroscience Network (rmn2), University Medical Center of the Johannes Gutenberg University Mainz, Germany Department of Neurology (H.F.F.H., E.A.H., G.O.N.), Oslo University Hospital Institute of Clinical Medicine (H.F.F.H., E.A.H., G.O.N.), and Department of Psychology (E.A.H.), University of Oslo, Norway Neuroimmunology and Multiple Sclerosis Unit Laboratory of Advanced Imaging in Neuroimmunological Diseases (ImaginEM) (S.L., E.M.-H.), Hospital Clinic Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Su, Barcelona, Spain Department of Neurology (C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Nuffield Department of Clinical Neurosciences (S. Messina, J.P.), University of Oxford, United Kingdom Department of Molecular Medicine and Medical Biotechnology (M.M.), and Department of Neurosciences and Reproductive and Odontostomatological Sciences (M.P.), University of Naples "Federico II" Department of Human Neurosciences (M.P.), Sapienza University of Rome, Italy Section of Neuroradiology (A.R.), Department of Radiology, and Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (J.S.-G.), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain MS Center Amsterdam (E.M.M.S.), Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Department of Neurology and Center of Clinical Neuroscience (T.U.), and Department of Radiology (M.V.), First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic MS Center Amsterdam (M.M.S.), Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Centre for Medical Image Computing (J.H.C.), Department of Computer Science, and Dementia Research Centre (J.H.C., F.B.), UCL Queen Square Institute of Neurology, University College London, United Kingdom
Al-Araji, Sarmad
Autor Al-Araji, Sarmad From the Queen Square Multiple Sclerosis Centre (G.P., F.P., J.C., B.K., O.A.-M., S.A.-A., A. Bianchi, W.J.B., R. Christensen, E.C., S. Collorone, M.A.F., Y.H., A.H., S. Mohamud, R.N., A.T.T., J.W., C.Y., O.C., F.B.), Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, United Kingdom MS Center Amsterdam (G.P., H.V., F.B.), Radiology and Nuclear Medicine, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Departments of Advanced Biomedical Sciences and Electrical Engineering and Information Technology (G.P., A. Brunetti, S. Cocozza), University of Naples "Federico II," Italy Centre for Medical Image Computing (F.P., B.K., F.B.), Department of Medical Physics and Biomedical Engineering, University College London, United Kingdom E-Health Center (F.P.), Universitat Oberta de Catalunya, Barcelona, Spain Institute of Neuroradiology (B.B., C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Department of Advanced Medical and Surgical Sciences (A. Bisecco, A.G.), University of Campania "Luigi Vanvitelli," Naples, Italy Translational Imaging in Neurology (ThINK) Basel (A.C., C. Granziera), Department of Biomedical Engineering, Faculty of Medicine, University Hospital Basel, University of Basel Neurologic Clinic and Policlinic (A.C., C. Granziera, J.K.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Switzerland Department of Neurosciences, Biomedicine and Movement Sciences (M. Calabrese, M. Castellaro), University of Verona Department of Information Engineering (M. Castellaro), University of Padova Department of Medicine, Surgery and Neuroscience (R. Cortese, N.D.S.), University of Siena, Italy Department of Neurology (C.E., D.P.), Medical University of Graz, Austria Neuroimaging Research Unit (M.F., M.A.R., P.V.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Neurology Unit, Neurorehabilitation Unit, Neurophysiology Service, IRCCS San Raffaele Scientific Institute Vita-Salute San Raffaele University (M.F., M.A.R., P.V.), Milan Department of Neurosciences (C. Gasperini, S.R.), San Camillo-Forlanini Hospital, Rome, Italy Department of Neurology (G.G.-E., S.G.), Focus Program Translational Neuroscience (FTN) and Immunotherapy (FZI), Rhine Main Neuroscience Network (rmn2), University Medical Center of the Johannes Gutenberg University Mainz, Germany Department of Neurology (H.F.F.H., E.A.H., G.O.N.), Oslo University Hospital Institute of Clinical Medicine (H.F.F.H., E.A.H., G.O.N.), and Department of Psychology (E.A.H.), University of Oslo, Norway Neuroimmunology and Multiple Sclerosis Unit Laboratory of Advanced Imaging in Neuroimmunological Diseases (ImaginEM) (S.L., E.M.-H.), Hospital Clinic Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Su, Barcelona, Spain Department of Neurology (C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Nuffield Department of Clinical Neurosciences (S. Messina, J.P.), University of Oxford, United Kingdom Department of Molecular Medicine and Medical Biotechnology (M.M.), and Department of Neurosciences and Reproductive and Odontostomatological Sciences (M.P.), University of Naples "Federico II" Department of Human Neurosciences (M.P.), Sapienza University of Rome, Italy Section of Neuroradiology (A.R.), Department of Radiology, and Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (J.S.-G.), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain MS Center Amsterdam (E.M.M.S.), Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Department of Neurology and Center of Clinical Neuroscience (T.U.), and Department of Radiology (M.V.), First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic MS Center Amsterdam (M.M.S.), Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Centre for Medical Image Computing (J.H.C.), Department of Computer Science, and Dementia Research Centre (J.H.C., F.B.), UCL Queen Square Institute of Neurology, University College London, United Kingdom
Bellenberg, Barbara
Autor Bellenberg, Barbara ORCID From the Queen Square Multiple Sclerosis Centre (G.P., F.P., J.C., B.K., O.A.-M., S.A.-A., A. Bianchi, W.J.B., R. Christensen, E.C., S. Collorone, M.A.F., Y.H., A.H., S. Mohamud, R.N., A.T.T., J.W., C.Y., O.C., F.B.), Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, United Kingdom MS Center Amsterdam (G.P., H.V., F.B.), Radiology and Nuclear Medicine, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Departments of Advanced Biomedical Sciences and Electrical Engineering and Information Technology (G.P., A. Brunetti, S. Cocozza), University of Naples "Federico II," Italy Centre for Medical Image Computing (F.P., B.K., F.B.), Department of Medical Physics and Biomedical Engineering, University College London, United Kingdom E-Health Center (F.P.), Universitat Oberta de Catalunya, Barcelona, Spain Institute of Neuroradiology (B.B., C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Department of Advanced Medical and Surgical Sciences (A. Bisecco, A.G.), University of Campania "Luigi Vanvitelli," Naples, Italy Translational Imaging in Neurology (ThINK) Basel (A.C., C. Granziera), Department of Biomedical Engineering, Faculty of Medicine, University Hospital Basel, University of Basel Neurologic Clinic and Policlinic (A.C., C. Granziera, J.K.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Switzerland Department of Neurosciences, Biomedicine and Movement Sciences (M. Calabrese, M. Castellaro), University of Verona Department of Information Engineering (M. Castellaro), University of Padova Department of Medicine, Surgery and Neuroscience (R. Cortese, N.D.S.), University of Siena, Italy Department of Neurology (C.E., D.P.), Medical University of Graz, Austria Neuroimaging Research Unit (M.F., M.A.R., P.V.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Neurology Unit, Neurorehabilitation Unit, Neurophysiology Service, IRCCS San Raffaele Scientific Institute Vita-Salute San Raffaele University (M.F., M.A.R., P.V.), Milan Department of Neurosciences (C. Gasperini, S.R.), San Camillo-Forlanini Hospital, Rome, Italy Department of Neurology (G.G.-E., S.G.), Focus Program Translational Neuroscience (FTN) and Immunotherapy (FZI), Rhine Main Neuroscience Network (rmn2), University Medical Center of the Johannes Gutenberg University Mainz, Germany Department of Neurology (H.F.F.H., E.A.H., G.O.N.), Oslo University Hospital Institute of Clinical Medicine (H.F.F.H., E.A.H., G.O.N.), and Department of Psychology (E.A.H.), University of Oslo, Norway Neuroimmunology and Multiple Sclerosis Unit Laboratory of Advanced Imaging in Neuroimmunological Diseases (ImaginEM) (S.L., E.M.-H.), Hospital Clinic Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Su, Barcelona, Spain Department of Neurology (C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Nuffield Department of Clinical Neurosciences (S. Messina, J.P.), University of Oxford, United Kingdom Department of Molecular Medicine and Medical Biotechnology (M.M.), and Department of Neurosciences and Reproductive and Odontostomatological Sciences (M.P.), University of Naples "Federico II" Department of Human Neurosciences (M.P.), Sapienza University of Rome, Italy Section of Neuroradiology (A.R.), Department of Radiology, and Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (J.S.-G.), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain MS Center Amsterdam (E.M.M.S.), Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Department of Neurology and Center of Clinical Neuroscience (T.U.), and Department of Radiology (M.V.), First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic MS Center Amsterdam (M.M.S.), Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Centre for Medical Image Computing (J.H.C.), Department of Computer Science, and Dementia Research Centre (J.H.C., F.B.), UCL Queen Square Institute of Neurology, University College London, United Kingdom
Bianchi, Alessia
Autor Bianchi, Alessia ORCID From the Queen Square Multiple Sclerosis Centre (G.P., F.P., J.C., B.K., O.A.-M., S.A.-A., A. Bianchi, W.J.B., R. Christensen, E.C., S. Collorone, M.A.F., Y.H., A.H., S. Mohamud, R.N., A.T.T., J.W., C.Y., O.C., F.B.), Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, United Kingdom MS Center Amsterdam (G.P., H.V., F.B.), Radiology and Nuclear Medicine, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Departments of Advanced Biomedical Sciences and Electrical Engineering and Information Technology (G.P., A. Brunetti, S. Cocozza), University of Naples "Federico II," Italy Centre for Medical Image Computing (F.P., B.K., F.B.), Department of Medical Physics and Biomedical Engineering, University College London, United Kingdom E-Health Center (F.P.), Universitat Oberta de Catalunya, Barcelona, Spain Institute of Neuroradiology (B.B., C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Department of Advanced Medical and Surgical Sciences (A. Bisecco, A.G.), University of Campania "Luigi Vanvitelli," Naples, Italy Translational Imaging in Neurology (ThINK) Basel (A.C., C. Granziera), Department of Biomedical Engineering, Faculty of Medicine, University Hospital Basel, University of Basel Neurologic Clinic and Policlinic (A.C., C. Granziera, J.K.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Switzerland Department of Neurosciences, Biomedicine and Movement Sciences (M. Calabrese, M. Castellaro), University of Verona Department of Information Engineering (M. Castellaro), University of Padova Department of Medicine, Surgery and Neuroscience (R. Cortese, N.D.S.), University of Siena, Italy Department of Neurology (C.E., D.P.), Medical University of Graz, Austria Neuroimaging Research Unit (M.F., M.A.R., P.V.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Neurology Unit, Neurorehabilitation Unit, Neurophysiology Service, IRCCS San Raffaele Scientific Institute Vita-Salute San Raffaele University (M.F., M.A.R., P.V.), Milan Department of Neurosciences (C. Gasperini, S.R.), San Camillo-Forlanini Hospital, Rome, Italy Department of Neurology (G.G.-E., S.G.), Focus Program Translational Neuroscience (FTN) and Immunotherapy (FZI), Rhine Main Neuroscience Network (rmn2), University Medical Center of the Johannes Gutenberg University Mainz, Germany Department of Neurology (H.F.F.H., E.A.H., G.O.N.), Oslo University Hospital Institute of Clinical Medicine (H.F.F.H., E.A.H., G.O.N.), and Department of Psychology (E.A.H.), University of Oslo, Norway Neuroimmunology and Multiple Sclerosis Unit Laboratory of Advanced Imaging in Neuroimmunological Diseases (ImaginEM) (S.L., E.M.-H.), Hospital Clinic Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Su, Barcelona, Spain Department of Neurology (C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Nuffield Department of Clinical Neurosciences (S. Messina, J.P.), University of Oxford, United Kingdom Department of Molecular Medicine and Medical Biotechnology (M.M.), and Department of Neurosciences and Reproductive and Odontostomatological Sciences (M.P.), University of Naples "Federico II" Department of Human Neurosciences (M.P.), Sapienza University of Rome, Italy Section of Neuroradiology (A.R.), Department of Radiology, and Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (J.S.-G.), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain MS Center Amsterdam (E.M.M.S.), Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Department of Neurology and Center of Clinical Neuroscience (T.U.), and Department of Radiology (M.V.), First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic MS Center Amsterdam (M.M.S.), Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Centre for Medical Image Computing (J.H.C.), Department of Computer Science, and Dementia Research Centre (J.H.C., F.B.), UCL Queen Square Institute of Neurology, University College London, United Kingdom
Bisecco, Alvino
Autor Bisecco, Alvino ORCID From the Queen Square Multiple Sclerosis Centre (G.P., F.P., J.C., B.K., O.A.-M., S.A.-A., A. Bianchi, W.J.B., R. Christensen, E.C., S. Collorone, M.A.F., Y.H., A.H., S. Mohamud, R.N., A.T.T., J.W., C.Y., O.C., F.B.), Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, United Kingdom MS Center Amsterdam (G.P., H.V., F.B.), Radiology and Nuclear Medicine, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Departments of Advanced Biomedical Sciences and Electrical Engineering and Information Technology (G.P., A. Brunetti, S. Cocozza), University of Naples "Federico II," Italy Centre for Medical Image Computing (F.P., B.K., F.B.), Department of Medical Physics and Biomedical Engineering, University College London, United Kingdom E-Health Center (F.P.), Universitat Oberta de Catalunya, Barcelona, Spain Institute of Neuroradiology (B.B., C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Department of Advanced Medical and Surgical Sciences (A. Bisecco, A.G.), University of Campania "Luigi Vanvitelli," Naples, Italy Translational Imaging in Neurology (ThINK) Basel (A.C., C. Granziera), Department of Biomedical Engineering, Faculty of Medicine, University Hospital Basel, University of Basel Neurologic Clinic and Policlinic (A.C., C. Granziera, J.K.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Switzerland Department of Neurosciences, Biomedicine and Movement Sciences (M. Calabrese, M. Castellaro), University of Verona Department of Information Engineering (M. Castellaro), University of Padova Department of Medicine, Surgery and Neuroscience (R. Cortese, N.D.S.), University of Siena, Italy Department of Neurology (C.E., D.P.), Medical University of Graz, Austria Neuroimaging Research Unit (M.F., M.A.R., P.V.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Neurology Unit, Neurorehabilitation Unit, Neurophysiology Service, IRCCS San Raffaele Scientific Institute Vita-Salute San Raffaele University (M.F., M.A.R., P.V.), Milan Department of Neurosciences (C. Gasperini, S.R.), San Camillo-Forlanini Hospital, Rome, Italy Department of Neurology (G.G.-E., S.G.), Focus Program Translational Neuroscience (FTN) and Immunotherapy (FZI), Rhine Main Neuroscience Network (rmn2), University Medical Center of the Johannes Gutenberg University Mainz, Germany Department of Neurology (H.F.F.H., E.A.H., G.O.N.), Oslo University Hospital Institute of Clinical Medicine (H.F.F.H., E.A.H., G.O.N.), and Department of Psychology (E.A.H.), University of Oslo, Norway Neuroimmunology and Multiple Sclerosis Unit Laboratory of Advanced Imaging in Neuroimmunological Diseases (ImaginEM) (S.L., E.M.-H.), Hospital Clinic Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Su, Barcelona, Spain Department of Neurology (C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Nuffield Department of Clinical Neurosciences (S. Messina, J.P.), University of Oxford, United Kingdom Department of Molecular Medicine and Medical Biotechnology (M.M.), and Department of Neurosciences and Reproductive and Odontostomatological Sciences (M.P.), University of Naples "Federico II" Department of Human Neurosciences (M.P.), Sapienza University of Rome, Italy Section of Neuroradiology (A.R.), Department of Radiology, and Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (J.S.-G.), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain MS Center Amsterdam (E.M.M.S.), Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Department of Neurology and Center of Clinical Neuroscience (T.U.), and Department of Radiology (M.V.), First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic MS Center Amsterdam (M.M.S.), Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Centre for Medical Image Computing (J.H.C.), Department of Computer Science, and Dementia Research Centre (J.H.C., F.B.), UCL Queen Square Institute of Neurology, University College London, United Kingdom
Brownlee, Wallace J
Autor Brownlee, Wallace J ORCID From the Queen Square Multiple Sclerosis Centre (G.P., F.P., J.C., B.K., O.A.-M., S.A.-A., A. Bianchi, W.J.B., R. Christensen, E.C., S. Collorone, M.A.F., Y.H., A.H., S. Mohamud, R.N., A.T.T., J.W., C.Y., O.C., F.B.), Department of Neuroinflammation, UCL Queen Square Institute of Neurology, University College London, United Kingdom MS Center Amsterdam (G.P., H.V., F.B.), Radiology and Nuclear Medicine, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Departments of Advanced Biomedical Sciences and Electrical Engineering and Information Technology (G.P., A. Brunetti, S. Cocozza), University of Naples "Federico II," Italy Centre for Medical Image Computing (F.P., B.K., F.B.), Department of Medical Physics and Biomedical Engineering, University College London, United Kingdom E-Health Center (F.P.), Universitat Oberta de Catalunya, Barcelona, Spain Institute of Neuroradiology (B.B., C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Department of Advanced Medical and Surgical Sciences (A. Bisecco, A.G.), University of Campania "Luigi Vanvitelli," Naples, Italy Translational Imaging in Neurology (ThINK) Basel (A.C., C. Granziera), Department of Biomedical Engineering, Faculty of Medicine, University Hospital Basel, University of Basel Neurologic Clinic and Policlinic (A.C., C. Granziera, J.K.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Switzerland Department of Neurosciences, Biomedicine and Movement Sciences (M. Calabrese, M. Castellaro), University of Verona Department of Information Engineering (M. Castellaro), University of Padova Department of Medicine, Surgery and Neuroscience (R. Cortese, N.D.S.), University of Siena, Italy Department of Neurology (C.E., D.P.), Medical University of Graz, Austria Neuroimaging Research Unit (M.F., M.A.R., P.V.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Neurology Unit, Neurorehabilitation Unit, Neurophysiology Service, IRCCS San Raffaele Scientific Institute Vita-Salute San Raffaele University (M.F., M.A.R., P.V.), Milan Department of Neurosciences (C. Gasperini, S.R.), San Camillo-Forlanini Hospital, Rome, Italy Department of Neurology (G.G.-E., S.G.), Focus Program Translational Neuroscience (FTN) and Immunotherapy (FZI), Rhine Main Neuroscience Network (rmn2), University Medical Center of the Johannes Gutenberg University Mainz, Germany Department of Neurology (H.F.F.H., E.A.H., G.O.N.), Oslo University Hospital Institute of Clinical Medicine (H.F.F.H., E.A.H., G.O.N.), and Department of Psychology (E.A.H.), University of Oslo, Norway Neuroimmunology and Multiple Sclerosis Unit Laboratory of Advanced Imaging in Neuroimmunological Diseases (ImaginEM) (S.L., E.M.-H.), Hospital Clinic Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Su, Barcelona, Spain Department of Neurology (C.L.), St. Josef Hospital, Ruhr-University Bochum, Germany Nuffield Department of Clinical Neurosciences (S. Messina, J.P.), University of Oxford, United Kingdom Department of Molecular Medicine and Medical Biotechnology (M.M.), and Department of Neurosciences and Reproductive and Odontostomatological Sciences (M.P.), University of Naples "Federico II" Department of Human Neurosciences (M.P.), Sapienza University of Rome, Italy Section of Neuroradiology (A.R.), Department of Radiology, and Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (J.S.-G.), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain MS Center Amsterdam (E.M.M.S.), Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Department of Neurology and Center of Clinical Neuroscience (T.U.), and Department of Radiology (M.V.), First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic MS Center Amsterdam (M.M.S.), Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC location VUmc, the Netherlands Centre for Medical Image Computing (J.H.C.), Department of Computer Science, and Dementia Research Centre (J.H.C., F.B.), UCL Queen Square Institute of Neurology, University College London, United Kingdom

Neurology. 2024 ; 103 (10) : e209976. [pub] 20241104

ISSN 1526-632X
Medvik
Zdroj

BACKGROUND AND OBJECTIVES: Disentangling brain aging from disease-related neurodegeneration in patients with multiple sclerosis (PwMS) is increasingly topical. The brain-age paradigm offers a window into this problem but may miss disease-specific effects. In this study, we investigated whether a disease-specific model might complement the brain-age gap (BAG) by capturing aspects unique to MS. METHODS: In this retrospective study, we collected 3D T1-weighted brain MRI scans of PwMS to build (1) a cross-sectional multicentric cohort for age and disease duration (DD) modeling and (2) a longitudinal single-center cohort of patients with early MS as a clinical use case. We trained and evaluated a 3D DenseNet architecture to predict DD from minimally preprocessed images while age predictions were obtained with the DeepBrainNet model. The brain-predicted DD gap (the difference between predicted and actual duration) was proposed as a DD-adjusted global measure of MS-specific brain damage. Model predictions were scrutinized to assess the influence of lesions and brain volumes while the DD gap was biologically and clinically validated within a linear model framework assessing its relationship with BAG and physical disability measured with the Expanded Disability Status Scale (EDSS). RESULTS: We gathered MRI scans of 4,392 PwMS (69.7% female, age: 42.8 ± 10.6 years, DD: 11.4 ± 9.3 years) from 15 centers while the early MS cohort included 749 sessions from 252 patients (64.7% female, age: 34.5 ± 8.3 years, DD: 0.7 ± 1.2 years). Our model predicted DD better than chance (mean absolute error = 5.63 years, R2 = 0.34) and was nearly orthogonal to the brain-age model (correlation between DD and BAGs: r = 0.06 [0.00-0.13], p = 0.07). Predictions were influenced by distributed variations in brain volume and, unlike brain-predicted age, were sensitive to MS lesions (difference between unfilled and filled scans: 0.55 years [0.51-0.59], p < 0.001). DD gap significantly explained EDSS changes (B = 0.060 [0.038-0.082], p < 0.001), adding to BAG (ΔR2 = 0.012, p < 0.001). Longitudinally, increasing DD gap was associated with greater annualized EDSS change (r = 0.50 [0.39-0.60], p < 0.001), with an incremental contribution in explaining disability worsening compared with changes in BAG alone (ΔR2 = 0.064, p < 0.001). DISCUSSION: The brain-predicted DD gap is sensitive to MS-related lesions and brain atrophy, adds to the brain-age paradigm in explaining physical disability both cross-sectionally and longitudinally, and may be used as an MS-specific biomarker of disease severity and progression.

MeSH
deep learning * MeSH
dospělí MeSH
lidé středního věku MeSH
lidé MeSH
longitudinální studie MeSH
magnetická rezonanční tomografie * MeSH
mozek * diagnostické zobrazování patologie MeSH
neurodegenerativní nemoci diagnostické zobrazování MeSH
průřezové studie MeSH
retrospektivní studie MeSH
roztroušená skleróza * diagnostické zobrazování patologie MeSH
stárnutí * patologie fyziologie MeSH
Check Tag
dospělí MeSH
lidé středního věku MeSH
lidé MeSH
mužské pohlaví MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
multicentrická studie MeSH

Článek

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Brain. 2020 ; 143 (9) : 2696-2708. [pub] 20200901

ISSN 1460-2156
Medvik
Zdroj

Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G>A. In LGMDR4 patients the most frequent mutation was c.341C>T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuromuscular centres across Europe. Our study provides important data on the genotype-phenotype correlation that is relevant for the design of natural history studies and upcoming interventional trials in sarcoglycanopathies.

MeSH
dítě MeSH
dospělí MeSH
genetické asociační studie * metody MeSH
kohortové studie MeSH
lidé středního věku MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
pletencové svalové dystrofie diagnóza epidemiologie genetika MeSH
předškolní dítě MeSH
retrospektivní studie MeSH
sarkoglykanopatie diagnóza epidemiologie genetika MeSH
senioři MeSH
Check Tag
dítě MeSH
dospělí MeSH
lidé středního věku MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
mužské pohlaví MeSH
předškolní dítě MeSH
senioři MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
multicentrická studie MeSH
pozorovací studie MeSH
práce podpořená grantem MeSH
Geografické názvy
Evropa MeSH

Kolekce

Publikováno

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