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2. Multivariable prognostic modelling to improve prediction of colorectal cancer recurrence: the PROSPeCT trial

Author

Goh, Vicky, Mallett, Susan, Boulter, Victor, Glynne-Jones, Robert, Khan, Saif, Lessels, Sarah, Patel, Dominic, Prezzi, Davide, Rodriguez-Justo, Manuel, Taylor, Stuart A., Beable, Richard, Betts, Margaret, Breen, David J., Britton, Ingrid, Brush, John, Correa, Peter, Dodds, Nicholas, Dunlop, Joanna, Gourtsoyianni, Sofia, Griffin, Nyree, Higginson, Antony, Lowe, Andrew, Slater, Andrew, Strugnell, Madeline, Tolan, Damian, Zealley, Ian, and Halligan, Steve

Published
2024
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5. Level I PD‐MCI Using Global Cognitive Tests and the Risk for Parkinson's Disease Dementia

Author

Boel, Judith A, de Bie, Rob MA, Schmand, Ben A, Dalrymple‐Alford, John C, Marras, Connie, Adler, Charles H, Goldman, Jennifer G, Tröster, Alexander I, Burn, David J, Litvan, Irene, Geurtsen, Gert J, Bernard, Bryan, Stebbins, Glenn, Filoteo, J Vincent, Weintraub, Daniel, Caviness, John N, Belden, Christine, Zabetian, Cyrus P, Cholerton, Brenna A, Huang, Xuemei, Eslinger, Paul J, Leverenz, James B, Duff‐Canning, Sarah, Farrer, Matt, Anderson, Tim J, Myall, Daniel J, Naismith, Sharon L, Lewis, Simon JG, Halliday, Glenda M, Wu, Ruey‐Meei, Williams‐Gray, Caroline H, Breen, David P, Barker, Roger A, Yarnall, Alison J, Klein, Martin, Mollenhauer, Brit, Trenkwalder, Claudia, Kulisevsky, Jaime, Pagonabarraga, Javier, Gasca‐Salas, Carmen, Rodriguez‐Oroz, Maria C, Junque, Carme, Segura, Barbara, Barone, Paolo, Santangelo, Gabriella, Cammisuli, Davide M, Biundo, Roberta, Antonini, Angelo, Weis, Luca, Pedersen, Kenn Freddy, and Alves, Guido

Subjects
Acquired Cognitive Impairment, Neurodegenerative, Neurosciences, Parkinson's Disease, Dementia, Clinical Research, Aging, Brain Disorders, Neurological, dementia, mild cognitive impairment, global cognitive tests, Parkinson's disease, diagnostic accuracy, MDS Study Group Mild Cognitive Impairment in Parkinson's Disease
Abstract

BackgroundThe criteria for PD-MCI allow the use of global cognitive tests. Their predictive value for conversion from PD-MCI to PDD, especially compared to comprehensive neuropsychological assessment, is unknown.MethodsThe MDS PD-MCI Study Group combined four datasets containing global cognitive tests as well as a comprehensive neuropsychological assessment to define PD-MCI (n = 467). Risk for developing PDD was examined using a Cox model. Global cognitive tests were compared to neuropsychological test batteries (Level I&II) in determining risk for PDD.ResultsPD-MCI based on a global cognitive test (MMSE or MoCA) increases the hazard for developing PDD (respectively HR = 2.57, P = 0.001; HR = 4.14, P =

Published
2022

6. TopoKnit : A Process-Oriented Representation for Modeling the Topology of Yarns in Weft-Knitted Textiles

Author

Kapllani, Levi, Amanatides, Chelsea, Dion, Genevieve, Shapiro, Vadim, and Breen, David E.

Subjects
Computer Science - Graphics
Abstract

Machine knitted textiles are complex multi-scale material structures increasingly important in many industries, including consumer products, architecture, composites, medical, and military. Computational modeling, simulation, and design of industrial fabrics require efficient representations of the spatial, material, and physical properties of such structures. We propose a process-oriented representation, TopoKnit, that defines a foundational data structure for representing the topology of weft-knitted textiles at the yarn scale. Process space serves as an intermediary between the machine and fabric spaces, and supports a concise, computationally efficient evaluation approach based on on-demand, near constant-time queries. In this paper, we define the properties of the process space, and design a data structure to represent it and algorithms to evaluate it. We demonstrate the effectiveness of the representation scheme by providing results of evaluations of the data structure in support of common topological operations in the fabric space., Comment: 22 pages, 27 figures

Published
2021

7. Ortus: an Emotion-Driven Approach to (artificial) Biological Intelligence

Author

McDonald, Andrew W. E., Grimes, Sean, and Breen, David E.

Subjects
Computer Science - Artificial Intelligence
Abstract

Ortus is a simple virtual organism that also serves as an initial framework for investigating and developing biologically-based artificial intelligence. Born from a goal to create complex virtual intelligence and an initial attempt to model C. elegans, Ortus implements a number of mechanisms observed in organic nervous systems, and attempts to fill in unknowns based upon plausible biological implementations and psychological observations. Implemented mechanisms include excitatory and inhibitory chemical synapses, bidirectional gap junctions, and Hebbian learning with its Stentian extension. We present an initial experiment that showcases Ortus' fundamental principles; specifically, a cyclic respiratory circuit, and emotionally-driven associative learning with respect to an input stimulus. Finally, we discuss the implications and future directions for Ortus and similar systems., Comment: \c{opyright} 2017 Massachusetts Institute of Technology Published under a Creative Commons Attribution 4.0 International

Published
2020
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8. White matter hyperintensities and smaller cortical thickness are associated with neuropsychiatric symptoms in neurodegenerative and cerebrovascular diseases

Author

Ozzoude, Miracle, Varriano, Brenda, Beaton, Derek, Ramirez, Joel, Adamo, Sabrina, Holmes, Melissa F., Scott, Christopher J. M., Gao, Fuqiang, Sunderland, Kelly M., McLaughlin, Paula, Goubran, Maged, Kwan, Donna, Roberts, Angela, Bartha, Robert, Symons, Sean, Tan, Brian, Swartz, Richard H., Abrahao, Agessandro, Saposnik, Gustavo, Masellis, Mario, Lang, Anthony E., Marras, Connie, Zinman, Lorne, Shoesmith, Christen, Borrie, Michael, Fischer, Corinne E., Frank, Andrew, Freedman, Morris, Montero-Odasso, Manuel, Kumar, Sanjeev, Pasternak, Stephen, Strother, Stephen C., Pollock, Bruce G., Rajji, Tarek K., Seitz, Dallas, Tang-Wai, David F., Turnbull, John, Dowlatshahi, Dar, Hassan, Ayman, Casaubon, Leanne, Mandzia, Jennifer, Sahlas, Demetrios, Breen, David P., Grimes, David, Jog, Mandar, Steeves, Thomas D. L., Arnott, Stephen R., Black, Sandra E., Finger, Elizabeth, Rabin, Jennifer, and Tartaglia, Maria Carmela

Published
2023
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9. Directing Chemotaxis-Based Spatial Self-Organization via Biased, Random Initial Conditions

Author

Grimes, Sean, Bai, Linge, McDonald, Andrew W. E., and Breen, David E.

Subjects
Computer Science - Multiagent Systems
Abstract

Inspired by the chemotaxis interaction of living cells, we have developed an agent-based approach for self-organizing shape formation. Since all our simulations begin with a different uniform random configuration and our agents move stochastically, it has been observed that the self-organization process may form two or more stable final configurations. These differing configurations may be characterized via statistical moments of the agents' locations. In order to direct the agents to robustly form one specific configuration, we generate biased initial conditions whose statistical moments are related to moments of the desired configuration. With this approach, we are able to successfully direct the aggregating swarms to produced a desired macroscopic shape, starting from randomized initial conditions with controlled statistical properties.

Published
2018

10. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Author

Rafehi, Haloom, Szmulewicz, David, Bennett, Mark, Sobreira, Nara, Pope, Kate, Smith, Katherine, Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael, Barcina, María, Breen, David, Chancellor, Andrew, Cremer, Phillip, Delatycki, Martin, Fogel, Brent, Hackett, Anna, Halmagyi, G, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan, Rosemergy, Ian, Storey, Elsdon, Watson, Shaun, Wilson, Michael, Zee, David, Valle, David, Amor, David, Bahlo, Melanie, and Lockhart, Paul

Subjects
CANVAS, ataxia, repeat expansions, short tandem repeats, whole-genome sequencing, Algorithms, Cerebellar Ataxia, Cohort Studies, Computational Biology, Family, Female, Genomics, Humans, Introns, Male, Microsatellite Repeats, Middle Aged, Polyneuropathies, Replication Protein C, Sensation Disorders, Syndrome, Vestibular Diseases, Whole Genome Sequencing
Abstract

Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded repeat sequences in NGS data. We performed genetic studies of a cohort of 35 individuals from 22 families with a clinical diagnosis of cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Analysis of whole-genome sequence (WGS) data with five independent algorithms identified a recessively inherited intronic repeat expansion [(AAGGG)exp] in the gene encoding Replication Factor C1 (RFC1). This motif, not reported in the reference sequence, localized to an Alu element and replaced the reference (AAAAG)11 short tandem repeat. Genetic analyses confirmed the pathogenic expansion in 18 of 22 CANVAS-affected families and identified a core ancestral haplotype, estimated to have arisen in Europe more than twenty-five thousand years ago. WGS of the four RFC1-negative CANVAS-affected families identified plausible variants in three, with genomic re-diagnosis of SCA3, spastic ataxia of the Charlevoix-Saguenay type, and SCA45. This study identified the genetic basis of CANVAS and demonstrated that these improved bioinformatics tools increase the diagnostic utility of WGS to determine the genetic basis of a heterogeneous group of clinically overlapping neurogenetic disorders.

Published
2019

12. Investigating the contribution of white matter hyperintensities and cortical thickness to empathy in neurodegenerative and cerebrovascular diseases

Author

Ozzoude, Miracle, Varriano, Brenda, Beaton, Derek, Ramirez, Joel, Holmes, Melissa F., Scott, Christopher J. M., Gao, Fuqiang, Sunderland, Kelly M., McLaughlin, Paula, Rabin, Jennifer, Goubran, Maged, Kwan, Donna, Roberts, Angela, Bartha, Robert, Symons, Sean, Tan, Brian, Swartz, Richard H., Abrahao, Agessandro, Saposnik, Gustavo, Masellis, Mario, Lang, Anthony E., Marras, Connie, Zinman, Lorne, Shoesmith, Christen, Borrie, Michael, Fischer, Corinne E., Frank, Andrew, Freedman, Morris, Montero-Odasso, Manuel, Kumar, Sanjeev, Pasternak, Stephen, Strother, Stephen C., Pollock, Bruce G., Rajji, Tarek K., Seitz, Dallas, Tang-Wai, David F., Turnbull, John, Dowlatshahi, Dar, Hassan, Ayman, Casaubon, Leanne, Mandzia, Jennifer, Sahlas, Demetrios, Breen, David P., Grimes, David, Jog, Mandar, Steeves, Thomas D. L., Arnott, Stephen R., Black, Sandra E., Finger, Elizabeth, and Tartaglia, Maria Carmela

Published
2022
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14. Serum Proteomics and Plasma Fibulin-3 in Differentiation of Mesothelioma From Asbestos-Exposed Controls and Patients With Other Pleural Diseases

Author

Tsim, Selina, Alexander, Laura, Kelly, Caroline, Shaw, Ann, Hinsley, Samantha, Clark, Stephen, Evison, Matthew, Holme, Jayne, Cameron, Euan J., Sharma, Davand, Wright, Angela, Grundy, Seamus, Grieve, Douglas, Ionescu, Alina, Breen, David P., Paramasivam, Elankumaran, Psallidas, Ioannis, Mukherjee, Dipak, Chetty, Mahendran, Cox, Giles, Hart-Thomas, Alan, Naseer, Rehan, Edwards, John, Daneshvar, Cyrus, Panchal, Rakesh, Munavvar, Mohammed, Ostroff, Rachel, Alexander, Leigh, Hall, Holly, Neilson, Matthew, Miller, Crispin, McCormick, Carol, Thomson, Fiona, Chalmers, Anthony J., Maskell, Nick A., and Blyth, Kevin G.

Published
2021
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15. Validation of a 5‐Year Prognostic Model for Parkinson's Disease.

Author

Ribeiro, Joana, Camacho, Marta, Scott, Kirsten M., Greenland, Julia C., Evans, Jonathan R., Breen, David P., Wijeyekoon, Ruwani S., Barker, Roger A., and Williams‐Gray, Caroline H.

Subjects
PARKINSON'S disease, PROGNOSTIC models, SAMPLE size (Statistics), DEMENTIA, ACQUISITION of data
Abstract

Background: A simple prognostic model was previously developed to predict the probability of recently‐diagnosed patients reaching negative outcomes (postural instability, dementia or death) in a 5‐year period. Objectives: To validate this model in an independent cohort and establish utility at later time points. Methods: Validation was performed using data collected in an incident cohort at baseline, 2 and 4 years. Predicted negative outcome probabilities were compared to actual 5‐year outcomes. Results: The model, based on age, MDS‐UPDRS axial score and 60‐second animal fluency, predicted poor 5‐year outcome when applied at baseline, (area under the curve (AUC) 0.80), 2 years (AUC 0.82) and 4 years (AUC 0.71). Power calculations showed that selecting a subgroup with prognostic score >0.5 reduced the sample size required for a disease‐modifying trial. Conclusions: This 5‐year prognostic model has good accuracy when employed up to 4 years from diagnosis and may help stratification for disease‐modifying trials. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Thermal ablation of colorectal liver metastases: a position paper by an international panel of ablation experts, the interventional oncology sans frontières meeting 2013

Author

Gillams, Alice, Goldberg, Nahum, Ahmed, Muneeb, Bale, Reto, Breen, David, Callstrom, Matthew, Chen, Min Hua, Choi, Byung Ihn, de Baere, Thierry, Dupuy, Damian, Gangi, Afshin, Gervais, Debra, Helmberger, Thomas, Jung, Ernst-Michael, Lee, Fred, Lencioni, Riccardo, Liang, Ping, Livraghi, Tito, Lu, David, Meloni, Franca, Pereira, Philippe, Piscaglia, Fabio, Rhim, Hyunchul, Salem, Riad, Sofocleous, Constantinos, Solomon, Stephen B, Soulen, Michael, Tanaka, Masatoshi, Vogl, Thomas, Wood, Brad, and Solbiati, Luigi

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Liver Disease, Biomedical Imaging, Cancer, Colo-Rectal Cancer, Digestive Diseases, Ablation Techniques, Colorectal Neoplasms, Humans, Liver Neoplasms, Survival Analysis, Colorectal neoplasms, Liver neoplasms, Ablation techniques, Consensus, Clinical protocols, Nuclear Medicine & Medical Imaging, Clinical sciences
Abstract

ObjectivesPrevious attempts at meta-analysis and systematic review have not provided clear recommendations for the clinical application of thermal ablation in metastatic colorectal cancer. Many authors believe that the probability of gathering randomised controlled trial (RCT) data is low. Our aim is to provide a consensus document making recommendations on the appropriate application of thermal ablation in patients with colorectal liver metastases.MethodsThis consensus paper was discussed by an expert panel at The Interventional Oncology Sans Frontières 2013. A literature review was presented. Tumour characteristics, ablation technique and different clinical applications were considered and the level of consensus was documented.ResultsSpecific recommendations are made with regard to metastasis size, number, and location and ablation technique. Mean 31 % 5-year survival post-ablation in selected patients has resulted in acceptance of this therapy for those with technically inoperable but limited liver disease and those with limited liver reserve or co-morbidities that render them inoperable.ConclusionsIn the absence of RCT data, it is our aim that this consensus document will facilitate judicious selection of the patients most likely to benefit from thermal ablation and provide a unified interventional oncological perspective for the use of this technology.Key points• Best results require due consideration of tumour size, number, volume and location. • Ablation technology, imaging guidance and intra-procedural imaging assessment must be optimised. • Accepted applications include inoperable disease due to tumour distribution or inadequate liver reserve. • Other current indications include concurrent co-morbidity, patient choice and the test-of-time approach. • Future applications may include resectable disease, e.g. for small solitary tumours.

Published
2015

19. Image-Guided Tumor Ablation: Standardization of Terminology and Reporting Criteria—A 10-Year Update

Author

Ahmed, Muneeb, Solbiati, Luigi, Brace, Christopher L, Breen, David J, Callstrom, Matthew R, Charboneau, J William, Chen, Min-Hua, Choi, Byung Ihn, de Baère, Thierry, Dodd, Gerald D, Dupuy, Damian E, Gervais, Debra A, Gianfelice, David, Gillams, Alice R, Lee, Fred T, Leen, Edward, Lencioni, Riccardo, Littrup, Peter J, Livraghi, Tito, Lu, David S, McGahan, John P, Meloni, Maria Franca, Nikolic, Boris, Pereira, Philippe L, Liang, Ping, Rhim, Hyunchul, Rose, Steven C, Salem, Riad, Sofocleous, Constantinos T, Solomon, Stephen B, Soulen, Michael C, Tanaka, Masatoshi, Vogl, Thomas J, Wood, Bradford J, Goldberg, S Nahum, Ablation, International Working Group on Image-Guided Tumor, Panel, Interventional Oncology Sans Frontières Expert, Radiology, Technology Assessment Committee of the Society of Interventional, and Society of Europe, the Standard of Practice Committee of the Cardiovascular and Interventional Radiological

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Biomedical Imaging, Cancer, Catheter Ablation, Humans, Neoplasms, Radiology, Interventional, International Working Group on Image-Guided Tumor Ablation, Interventional Oncology Sans Frontières Expert Panel, Technology Assessment Committee of the Society of Interventional Radiology, Standard of Practice Committee of the Cardiovascular and Interventional Radiological Society of Europe, Clinical Sciences, Nuclear Medicine & Medical Imaging, Clinical sciences
Abstract

Image-guided tumor ablation has become a well-established hallmark of local cancer therapy. The breadth of options available in this growing field increases the need for standardization of terminology and reporting criteria to facilitate effective communication of ideas and appropriate comparison among treatments that use different technologies, such as chemical (eg, ethanol or acetic acid) ablation, thermal therapies (eg, radiofrequency, laser, microwave, focused ultrasound, and cryoablation) and newer ablative modalities such as irreversible electroporation. This updated consensus document provides a framework that will facilitate the clearest communication among investigators regarding ablative technologies. An appropriate vehicle is proposed for reporting the various aspects of image-guided ablation therapy including classification of therapies, procedure terms, descriptors of imaging guidance, and terminology for imaging and pathologic findings. Methods are addressed for standardizing reporting of technique, follow-up, complications, and clinical results. As noted in the original document from 2003, adherence to the recommendations will improve the precision of communications in this field, leading to more accurate comparison of technologies and results, and ultimately to improved patient outcomes.

Published
2014

24. Prediction of cognition in Parkinson's disease with a clinical–genetic score: a longitudinal analysis of nine cohorts

Author

Scherzer, Clemens R., Hyman, Bradley T., Ivinson, Adrian J., Trisini-Lipsanopoulos, Ana, Franco, Daly, Burke, Kyle, Sudarsky, Lewis R., Hayes, Michael T., Umeh, Chizoba C., Sperling, Reisa, Growdon, John H., Schwarzschild, Michael A., Hung, Albert Y., Flaherty, Alice W., Blacker, Deborah, Wills, Anne-Marie, Sohur, U. Shivraj, Mejia, Nicte I., Viswanathan, Anand, Gomperts, Stephen N., Khurana, Vikram, Albers, Mark W., Alora-Palli, Maria, McGinnis, Scott, Sharma, Nutan, Dickerson, Bradford, Frosch, Matthew, Gomez-Isla, Teresa, Greenberg, Steven, Gusella, James, Hedden, Trey, Hedley-Whyte, E Tessa, Koenig, Aaron, Marquis-Sayagues, Marta, Marshall, Gad, Okereke, Olivia, Stemmer-Rachaminov, Anat, Kloppenburg, Jessica, Schlossmacher, Michael G., Selkoe, Dennis J., Yi, Thomas, Locascio, Joseph J., Li, Haining, Stalberg, Gabriel, Liao, Zhixiang, Barker, Roger, Foltynie, Tom, Williams-Gray, Caroline, Robbins, Trevor, Brayne, Carol, Mason, Sarah, Winder-Rhodes, Sophie, Breen, David P, Cummins, Gemma, Evans, Jonathan, van Hilten, Jacobus J., Marinus, Johan, Corvol, Jean-Christophe, Brice, Alexis, Elbaz, Alexis, Mallet, Alain, Vidailhet, Marie, Bonnet, Anne-Marie, Bonnet, Cecilia, Grabli, David, Hartmann, Andreas, Klebe, Stephan, Lacomblez, Lucette, Mangone, Graziella, Bourdain, Frédéric, Brandel, Jean-Philippe, Derkinderen, Pascal, Durif, Franck, Mesnage, Valérie, Pico, Fernando, Rascol, Olivier, Brefel-Courbon, Christine, Ory-Magne, Fabienne, Forlani, Sylvie, Lesage, Suzanne, Tahiri, Khadija, Albin, Roger, Alcalay, Roy, Ascherio, Alberto, Bowman, Dubois, Chen-Plotkin, Alice, Dawson, Ted, Dewey, Richard, German, Dwight, Saunders-Pullman, Rachel, Scherzer, Clemens, Vaillancourt, David, Petyuk, Vladislav, West, Andy, Zhang, Jing, Liu, Ganqiang, Locascio, Joseph J, Boot, Brendon, Page, Kara, Jansen, Iris E, Tanner, Caroline M, Lang, Anthony E, Eberly, Shirley, Ravina, Bernard, Shoulson, Ira, Cormier-Dequaire, Florence, Heutink, Peter, van Hilten, Jacobus J, Barker, Roger A, Williams-Gray, Caroline H, and Scherzer, Clemens R

Published
2017
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27. Genetic risk of Parkinson disease and progression: An analysis of 13 longitudinal cohorts

Author

Iwaki, Hirotaka, Blauwendraat, Cornelis, Leonard, Hampton L., Liu, Ganqiang, Maple-Grødem, Jodi, Corvol, Jean-Christophe, Pihlstrøm, Lasse, van Nimwegen, Marlies, Hutten, Samantha J., Nguyen, Khanh-Dung H., Rick, Jacqueline, Eberly, Shirley, Faghri, Faraz, Auinger, Peggy, Scott, Kirsten M., Wijeyekoon, Ruwani, Van Deerlin, Vivianna M., Hernandez, Dena G., Day-Williams, Aaron G., Brice, Alexis, Alves, Guido, Noyce, Alastair J., Tysnes, Ole-Bjørn, Evans, Jonathan R., Breen, David P., Estrada, Karol, Wegel, Claire E., Danjou, Fabrice, Simon, David K., Ravina, Bernard, Toft, Mathias, Heutink, Peter, Bloem, Bastiaan R., Weintraub, Daniel, Barker, Roger A., Williams-Gray, Caroline H., van de Warrenburg, Bart P., Van Hilten, Jacobus J., Scherzer, Clemens R., Singleton, Andrew B., and Nalls, Mike A.

Published
2019
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30. Rare neurovascular genetic and imaging markers across neurodegenerative diseases

Author

Dilliott, Allison A, Berberian, Stephanie A, Sunderland, Kelly M, Binns, Malcolm A, Zimmer, Julia, Ozzoude, Miracle, Scott, Christopher J M, Gao, Fuqiang, Lang, Anthony E, Breen, David P, Tartaglia, Maria C, Tan, Brian, Swartz, Richard H, Rogaeva, Ekaterina, Borrie, Michael, Finger, Elizabeth, Fischer, Corinne E, Frank, Andrew, Freedman, Morris, Kumar, Sanjeev, Pasternak, Stephen, Pollock, Bruce G, Rajji, Tarek K, Tang-Wai, David F, Abrahao, Agessandro, Turnbull, John, Zinman, Lorne, Casaubon, Leanne, Dowlatshahi, Dar, Hassan, Ayman, Mandzia, Jennifer, Sahlas, Demetrios, Saposnik, Gustavo, Grimes, David, Marras, Connie, Steeves, Thomas, Masellis, Mario, Farhan, Sali M K, Bartha, Robert, Symons, Sean, Hegele, Robert A, Black, Sandra E, and Ramirez, Joel

Abstract

INTRODUCTION: Cerebral small vessel disease (SVD) is common in patients with cognitive impairment and neurodegenerative diseases such as Alzheimer's and Parkinson's. This study investigated the burden of magnetic resonance imaging (MRI)-based markers of SVD in patients with neurodegenerative diseases as a function of rare genetic variant carrier status.METHODS: The Ontario Neurodegenerative Disease Research Initiative study included 520 participants, recruited from 14 tertiary care centers, diagnosed with various neurodegenerative diseases and determined the carrier status of rare non-synonymous variants in five genes (ABCC6, COL4A1/COL4A2, NOTCH3/HTRA1).RESULTS: NOTCH3/HTRA1 were found to significantly influence SVD neuroimaging outcomes; however, the mechanisms by which these variants contribute to disease progression or worsen clinical correlates are not yet understood.DISCUSSION: Further studies are needed to develop genetic and imaging neurovascular markers to enhance our understanding of their potential contribution to neurodegenerative diseases.

Published
2023
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31. Rare neurovascular genetic and imaging markers across neurodegenerative diseases.

Author

Dilliott, Allison A., Berberian, Stephanie A., Sunderland, Kelly M., Binns, Malcolm A., Zimmer, Julia, Ozzoude, Miracle, Scott, Christopher J. M., Gao, Fuqiang, Lang, Anthony E., Breen, David P., Tartaglia, Maria C., Tan, Brian, Swartz, Richard H., Rogaeva, Ekaterina, Borrie, Michael, Finger, Elizabeth, Fischer, Corinne E., Frank, Andrew, Freedman, Morris, and Kumar, Sanjeev

Abstract

INTRODUCTION: Cerebral small vessel disease (SVD) is common in patients with cognitive impairment and neurodegenerative diseases such as Alzheimer's and Parkinson's. This study investigated the burden of magnetic resonance imaging (MRI)‐based markers of SVD in patients with neurodegenerative diseases as a function of rare genetic variant carrier status. METHODS: The Ontario Neurodegenerative Disease Research Initiative study included 520 participants, recruited from 14 tertiary care centers, diagnosed with various neurodegenerative diseases and determined the carrier status of rare non‐synonymous variants in five genes (ABCC6, COL4A1/COL4A2, NOTCH3/HTRA1). RESULTS: NOTCH3/HTRA1 were found to significantly influence SVD neuroimaging outcomes; however, the mechanisms by which these variants contribute to disease progression or worsen clinical correlates are not yet understood. DISCUSSION: Further studies are needed to develop genetic and imaging neurovascular markers to enhance our understanding of their potential contribution to neurodegenerative diseases. [ABSTRACT FROM AUTHOR]

Published
2023
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34. White matter hyperintensity burden predicts cognitive but not motor decline in Parkinson's disease. Results from the ONDRI

Author

Carvalho de Abreu, Daniela Cristina, Pieruccini-Faria, Frederico, Sarquis-Adamson, Yanina, Black, Alanna, Fraser, Julia, Van Ooteghem, Karen, Cornish, Benjamin, Grimes, David, Jog, Mandar, Masellis, Mario, Steeves, Thomas, Nanayakkara, Nuwan, Ramirez, Joel, Scott, Christopher, Holmes, Melissa, Ozzoude, Miracle, Berezuk, Courtney, Symons, Sean, Mohammad Hassan Haddad, Seyyed, Arnott, Stephen R, Binns, Malcolm, Strother, Stephen, Beaton, Derek, Sunderland, Kelly, Theyers, Athena, Tan, Brian, Zamyadi, Mojdeh, Levine, Brian, Orange, Joseph B, Roberts, Angela C, Lou, Wendy, Sujanthan, Sujeevini, Breen, David P, Marras, Connie, Kwan, Donna, Adamo, Sabrina, Peltsch, Alicia, Troyer, Angela K, Black, Sandra E, McLaughlin, Paula M, Lang, Anthony E, McIlroy, William, Bartha, Robert, and Montero-Odasso, Manuel

Abstract

BACKGROUND: The pathophysiology of Parkinson's disease (PD) negatively affects brain network connectivity, and in the presence of brain white matter hyperintensities (WMH) cognitive and motor impairments seem to be aggravated. However, the role of WMH in predicting accelerating symptom worsening remains controversial.OBJECTIVE: To investigate whether location and segmental brain WMH burden at baseline predicts cognitive and motor declines in PD after 2 years.METHODS: 98 older adults followed longitudinally from Ontario Neurodegenerative Diseases Research Initiative (ONDRI) with PD of 3-8 years in duration were included. Percentages of WMH volumes at baseline were calculated by location (deep and periventricular) and by brain regions (frontal, temporal, parietal, occipital lobes, and basal ganglia+thalamus). Cognitive and motor changes were assessed from baseline to 2-year follow-up. Specifically, global cognition, attention, executive function, memory, visuospatial abilities, and language were assessed as were motor symptoms evaluated using MDS-UPDRS Part III, spatial-temporal gait variables, Freezing of Gait questionnaire and Activities-Specific Balance Confidence Scale.RESULTS: Regression analysis adjusted for potential confounders showed that total and periventricular WMH at baseline predicted decline in global cognition (pCONCLUSION: WMH burden at baseline predicted only cognitive decline in PD. The motor decline observed after 2-years in these participants with early to mid-stage PD is probably related to the primary neurodegenerative process more than comorbid WM pathology.

Published
2023
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36. Long-term safety and tolerability of ProSavin, a lentiviral vector-based gene therapy for Parkinson's disease: a dose escalation, open-label, phase 1/2 trial

Author

Palfi, Stéphane, Gurruchaga, Jean Marc, Ralph, G Scott, Lepetit, Helene, Lavisse, Sonia, Buttery, Philip C, Watts, Colin, Miskin, James, Kelleher, Michelle, Deeley, Sarah, Iwamuro, Hirokazu, Lefaucheur, Jean Pascal, Thiriez, Claire, Fenelon, Gilles, Lucas, Cherry, Brugières, Pierre, Gabriel, Inanna, Abhay, Kou, Drouot, Xavier, Tani, Naoki, Kas, Aurelie, Ghaleh, Bijan, Le Corvoisier, Philippe, Dolphin, Patrice, Breen, David P, Mason, Sarah, Guzman, Natalie Valle, Mazarakis, Nicholas D, Radcliffe, Pippa A, Harrop, Richard, Kingsman, Susan M, Rascol, Olivier, Naylor, Stuart, Barker, Roger A, Hantraye, Philippe, Remy, Philippe, Cesaro, Pierre, and Mitrophanous, Kyriacos A

Published
2014
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43. White Matter Hyperintensities and Cortical Atrophy are associated with Neuropsychiatric Symptoms in Neurodegenerative and Cerebrovascular Diseases

Author

Ozzoude, Miracle, primary, Varriano, Brenda, additional, Beaton, Derek, additional, Ramirez, Joel, additional, Adamo, Sabrina, additional, Holmes, Melissa F., additional, Scott, Christopher J.M., additional, Gao, Fuqiang, additional, Sunderland, Kelly M., additional, McLaughlin, Paula, additional, Goubran, Maged, additional, Kwan, Donna, additional, Roberts, Angela, additional, Bartha, Robert, additional, Symons, Sean, additional, Tan, Brian, additional, Swartz, Richard H., additional, Abrahao, Agessandro, additional, Saposnik, Gustavo, additional, Masellis, Mario, additional, Lang, Anthony E., additional, Marras, Connie, additional, Zinman, Lorne, additional, Shoesmith, Christen, additional, Borrie, Michael, additional, Fischer, Corinne E., additional, Frank, Andrew, additional, Freedman, Morris, additional, Montero-Odasso, Manuel, additional, Kumar, Sanjeev, additional, Pasternak, Stephen, additional, Strother, Stephen C., additional, Pollock, Bruce G., additional, Rajji, Tarek K., additional, Seitz, Dallas, additional, Tang-Wai, David F., additional, Turnbull, John, additional, Dowlatshahi, Dar, additional, Hassan, Ayman, additional, Casaubon, Leanne, additional, Mandzia, Jennifer, additional, Sahlas, Demetrios, additional, Breen, David P., additional, Grimes, David, additional, Jog, Mandar, additional, Steeves, Thomas D.L., additional, Arnott, Stephen R., additional, Black, Sandra E., additional, Finger, Elizabeth, additional, Rabin, Jennifer, additional, Investigators, ONDRI, additional, and Tartaglia, Maria Carmela, additional

Published
2022
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