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From brain volumes to subgroup classification in genetic mutation carriers for frontotemporal dementia: A cluster analysis in the GENFI study

引用

Alzheimer's & Dementia 2021年第S5期17卷

作者： Martina Bocchetta Emily G. Todd Jennifer M. Nicholas Carolin Heller Imogen J. Swift Georgia Peakman David M. Cash Rhian S. Convery Lucy L. Russell David L. Thomas Juan Eugenio Iglesias John C. van Swieten Lize C. Jiskoot Harro Seelaar Barbara Borroni Daniela Galimberti Raquel Sanchez-Valle Robert Laforce Jr. Fermin Moreno Matthis Synofzik Caroline Graff Mario Masellis Maria Carmela Tartaglia James B. Rowe Rik Vandenberghe Elizabeth Finger Fabrizio Tagliavini Alexandre Mendonca Isabel Santana Christopher Butler Simon Ducharme Alexander Gerhard Adrian Danek Johannes Levin Markus Otto Sandro Sorbi Isabelle Le Ber Florence Pasquier Jonathan D. Rohrer Genetic Frontotemporal dementia Initiative (GENFI) Dementia Research Centre UCL Queen Square Institute of Neurology University College London London United Kingdom Department of Medical Statistics London School of Hygiene and Tropical Medicine London United Kingdom Dementia Research Centre Queen Square Institute of Neurology University College London London United Kingdom Centre for Medical Image Computing Department of Medical Physics and Biomedical Engineering University College London London United Kingdom Dementia Research Centre Department of Neurodegenerative Disease UCL Institute of Neurology Queen Square London United Kingdom Neuroradiological Academic Unit UCL Queen Square Institute of Neurology UCL London United Kingdom Computer Science and Artificial Intelligence Laboratory Massachusetts Institute of Technology Cambridge MA USA Martinos Center for Biomedical Imaging Massachusetts General Hospital and Harvard Medical School Charlestown MA USA Alzheimer Center Erasmus Medical Center Rotterdam Netherlands Erasmus MC Rotterdam Netherlands Erasmus Medical Center Rotterdam Netherlands Centre for Neurodegenerative Disorders Neurology Unit Department of Clinical and Experimental Sciences University of Brescia Brescia Italy University of Milan Milan Italy Department of Biomedical Surgical and Dental Sciences University of Milan Milan Italy Neurology Department Hospital Clínic. Institut d'Investigacions Biomediques Barcelona Spain Clinique Interdisciplinaire de Mémoire CHU de Québec/Université Laval/Hôpital de l’Enfant-Jésus Quebec City QC Canada Hospital Universitario Donostia San Sebastian Spain Centre for Neurology and Hertie-Institute for Clinical Brain Research Hoppe-Seyler-Str Tuebingen Germany Karolinska Institutet Department NVS Division of Neurogeriatrics Karolinska Institutet Stockholm Sweden Unit for Hereditary Dementia Theme Aging Karolinska University Hospital-Solna Stockholm Sweden LC Campbell Cognitive Neurology Research Unit Sunnybrook Research Institute Toronto ON Canada T

Background Genetic frontotemporal dementia (FTD) is highly heterogeneous, with carriers of mutations in the same gene manifesting different phenotypes. Using in vivo MR images from the Genetic FTD Initiative (GENFI), we aimed to identify subgroups within the same genetic group whose brains were affected differently. Method Cortical and subcortical volumes of interest were generated using automated parcellation methods on volumetric 3T T1-weighted MRI scans for 479 carriers (198 GRN , 202 C9orf72 , and 79 MAPT mutation carriers). W-scores for 85 volumes of interest were computed from a linear regression model carried out on 298 non-carrier cognitively normal controls adjusting for the effect of age, sex, total intracranial volume and scanner type. Cluster analyses with the Ward agglomerating method were performed on all w-scores while considering the three genetic groups independently. The identified clusters were then compared for age, estimated years from onset, global and sum of boxes scores of the CDR® plus NACC FTLD (at baseline and after one year), neurofilament light chain (NfL) levels in the plasma and w-scores in brain regions typically showing early atrophy (Kruskal-Wallis test). Result We identified three clusters among the GRN mutation carriers and four in the MAPT and C9orf72 groups, which were all significantly different for the variables reported in the Table (p-value<0.003). For all three genetic groups, one cluster was formed by patients with a clinical diagnosis of FTD, with more extensive atrophy and increased disease severity. For the remaining clusters, there seemed to be an association with disease severity for MAPT and GRN mutation carriers but not so for C9orf72 expansion carriers where clinical scores were not clearly associated with a specific cluster. Conclusion By only looking at regional brain volumes, we were able to detect different clusters within carriers of mutations in the same gene, with C9orf72 expansion carriers being the most he

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The SARAO MeerKAT 1.3 GHz Galactic Plane Survey

arXiv

引用

arXiv 2023年

作者： Goedhart, S. Cotton, W.D. Camilo, F. Thompson, M.A. Umana, G. Bietenholz, M. Woudt, P.A. Anderson, L.D. Bordiu, C. Buckley, D.A.H. Buemi, C.S. Bufano, F. Cavallaro, F. Chen, H. Chibueze, J.O. Egbo, D. Frank, B.S. Hoare, M.G. Ingallinera, A. Irabor, T. Kraan-Korteweg, R.C. Kurapati, S. Leto, P. Loru, S. Mutale, M. Obonyo, W.O. Plavin, A. Rajohnson, S.H.A. Rigby, A. Riggi, S. Seidu, M. Serra, P. Smart, B.M. Stappers, B.W. Steyn, N. Surnis, M. Trigilio, C. Williams, G.M. Abbott, T.D. Adam, R.M. Asad, K.M.B. Baloyi, T. Bauermeister, E.F. Bennet, T.G.H. Bester, H. Botha, A.G. Brederode, L.R.S. Buchner, S. Burger, J.P. Cheetham, T. Cloete, K. de Villiers, M.S. de Villiers, D.I.L. du Toit, L.J. Esterhuyse, S.W.P. Fanaroff, B.L. Fourie, D.J. Gamatham, R.R.G. Gatsi, T.G. Geyer, M. Gouws, M. Gumede, S.C. Heywood, I. Hokwana, A. Hoosen, S.W. Horn, D.M. Horrell, L.M.G. Hugo, B.V. Isaacson, A.I. Józsa, G.I.G. Jonas, J.L. Jordaan, J.D.B.L. Joubert, A.F. Julie, R.P.M. Kapp, F.B. Kriek, N. Kriel, H. Krishnan, V.K. Kusel, T.W. Legodi, L.S. Lehmensiek, R. Lord, R.T. Macfarlane, P.S. Magnus, L.G. Magozore, C. Main, J.P.L. Malan, J.A. Manley, J.R. Marais, S.J. Maree, M.D.J. Martens, A. Maruping, P. McAlpine, K. Merry, B.C. Mgodeli, M. Millenaar, R.P. Mokone, O.J. Monama, T.E. New, W.S. Ngcebetsha, B. Ngoasheng, K.J. Nicolson, G.D. Ockards, M.T. Oozeer, N. Passmoor, S.S. Patel, A.A. Peens-Hough, A. Perkins, S.J. Ramaila, A.J.T. Ratcliffe, S.M. Renil, R. Richter, L.L. Salie, S. Sambu, N. Schollar, C.T.G. Schwardt, L.C. Schwartz, R.L. Serylak, M. Siebrits, R. Sirothia, S.K. Slabber, M.J. Smirnov, O.M. Tiplady, A.J. van Balla, T.J. van der Byl, A. Van Tonder, V. Venter, A.J. Venter, M. Welz, M.G. Williams, L.P. South African Radio Astronomy Observatory 2 Fir Street Observatory7925 South Africa SKA Observatory 2 Fir Street Observatory7925 South Africa National Radio Astronomy Observatory 520 Edgemont Road CharlottesvilleVA22903 United States School of Physics and Astronomy University of Leeds LeedsLS2 9JT United Kingdom INAF – Osservatorio Astrofisico di Catania Via S. Sofia 78 CataniaI-95123 Italy SARAO Hartebeesthoek Radio Astronomy Observatory PO Box 443 Krugersdorp1740 South Africa Department of Physics and Astronomy York University TorontoONM3J 1P3 Canada Department of Astronomy University of Cape Town Private Bag X3 Rondebosch7701 South Africa Department of Physics and Astronomy West Virginia University MorgantownWV26506 United States Adjunct Astronomer at the Green Bank Observatory P.O. Box 2 Green Bank WV24944 United States Center for Gravitational Waves and Cosmology West Virginia University Chestnut Ridge Research Building MorgantownWV26505 United States South African Astronomical Observatory PO Box 9 Observatory Cape Town7935 South Africa Department of Physics University of the Free State PO Box 339 Bloemfontein9300 South Africa Research Center for Intelligent Computing Platforms Zhejiang Laboratory Hangzhou311100 China Department of Mathematical Sciences University of South Africa Cnr Christian de Wet Rd and Pioneer Avenue Florida Park Roodepoort1709 South Africa Centre for Space Research Physics Department North-West University Potchefstroom2520 South Africa Department of Physics and Astronomy Faculty of Physical Sciences University of Nigeria Carver Building 1 University Road Nsukka410001 Nigeria University of Cape Town Private Bag X3 Rondebosch7701 South Africa UK Astronomy Technology Centre Royal Observatory Edinburgh Blackford Hill EdinburghEH9 3HJ United Kingdom Department of Astronomy and Space Science Technical University of Kenya Nairobi Kenya Astro Space Center of Lebedev Physical Institute Profsouzna

We present the SARAO MeerKAT Galactic Plane Survey (SMGPS), a 1.3 GHz continuum survey of almost half of the Galactic Plane (251◦ ≤ l ≤ 358◦ and 2◦ ≤ l ≤ 61◦ at |b| ≤ 1◦. 5). SMGPS is the largest, most sensitive ... 详细信息

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Mid-Range Science Objectives for the Event Horizon Telescope

arXiv

引用

arXiv 2024年

作者： Akiyama, Kazunori Albentosa-Ruíz, Ezequiel Alberdi, Antxon Alef, Walter Algaba, Juan Carlos Anantua, Richard Asada, Keiichi Azulay, Rebecca Bach, Uwe Baczko, Anne-Kathrin Ball, David Balokovi, Mislav Bandyopadhyay, Bidisha Barrett, John Baubck, Michi Benson, Bradford A. Bintley, Dan Blackburn, Lindy Blundell, Raymond Bouman, Katherine L. Bower, Geoffrey C. Bremer, Michael Brissenden, Roger Britzen, Silke Broderick, Avery E. Broguiere, Dominique Bronzwaer, Thomas Bustamante, Sandra Carlstrom, John E. Chael, Andrew Chan, Chi-Kwan Chang, Dominic O. Chatterjee, Koushik Chatterjee, Shami Chen, Ming-Tang Chen, Yongjun Cheng, Xiaopeng Cho, Ilje Christian, Pierre Conroy, Nicholas S. Conway, John E. Crawford, Thomas M. Crew, Geoffrey B. Cruz-Osorio, Alejandro Cui, Yuzhu Curd, Brandon Dahale, Rohan Davelaar, Jordy De Laurentis, Mariafelicia Deane, Roger Dempsey, Jessica Desvignes, Gregory Dexter, Jason Dhruv, Vedant Dihingia, Indu K. Doeleman, Sheperd S. Dzib, Sergio A. Eatough, Ralph P. Emami, Razieh Falcke, Heino Farah, Joseph Fish, Vincent L. Fomalont, Edward Ford, H. Alyson Foschi, Marianna Fraga-Encinas, Raquel Freeman, William T. Friberg, Per Fromm, Christian M. Fuentes, Antonio Galison, Peter Gammie, Charles F. García, Roberto Gentaz, Olivier Georgiev, Boris Goddi, Ciriaco Gold, Roman Gómez-Ruiz, Arturo I. Gómez, JoséL Gu, Minfeng Gurwell, Mark Hada, Kazuhiro Haggard, Daryl Hesper, Ronald Heumann, Dirk Ho, Luis C. Ho, Paul Honma, Mareki Huang, Chih-Wei L. Huang, Lei Hughes, David H. Ikeda, Shiro Impellizzeri, C.M. Violette Inoue, Makoto Issaoun, Sara James, David J. Jannuzi, Buell T. Janssen, Michael Jeter, Britton Jiang, Wu Jiménez-Rosales, Alejandra Johnson, Michael D. Jorstad, Svetlana Jones, Adam C. Joshi, Abhishek V. Jung, Taehyun Karuppusamy, Ramesh Kawashima, Tomohisa Keating, Garrett K. Kettenis, Mark Kim, Dong-Jin Kim, Jae-Young Kim, Jongsoo Kim, Junhan Kino, Motoki Koay, Jun Yi Kocherlakota, Prashant Kofuji, Yutaro Koch, Patrick M. Koyama, Shoko Kramer, Carsten Kramer, Joana A. Kramer, Michael Krichbaum, T Massachusetts Institute of Technology Haystack Observatory 99 Millstone Road WestfordMA01886 United States National Astronomical Observatory of Japan 2-21-1 Osawa Mitaka Tokyo181-8588 Japan Black Hole Initiative Harvard University 20 Garden Street CambridgeMA02138 United States Departament d’Astronomia i Astrofísica Universitat de València C. Dr. Moliner 50 Burjassot ValènciaE-46100 Spain Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n GranadaE-18008 Spain Max-Planck-Institut für Radioastronomie Auf dem Hügel 69 BonnD-53121 Germany Department of Physics Faculty of Science Universiti Malaya Kuala Lumpur50603 Malaysia Center for Astrophysics Harvard & Smithsonian 60 Garden Street CambridgeMA02138 United States Department of Physics & Astronomy The University of Texas at San Antonio One UTSA Circle San AntonioTX78249 United States Institute of Astronomy and Astrophysics Academia Sinica 11F of Astronomy-Mathematics Building AS/NTU No. 1 Sec. 4 Roosevelt Rd. Taipei106216 Taiwan Observatori Astronòmic Universitat de València C. Catedrático JoséBeltrán 2 Paterna ValènciaE-46980 Spain Department of Space Earth and Environment Chalmers University of Technology Onsala Space Observatory OnsalaSE-43992 Sweden Steward Observatory Department of Astronomy University of Arizona 933 N. Cherry Ave. TucsonAZ85721 United States Yale Center for Astronomy & Astrophysics Yale University 52 Hillhouse Avenue New HavenCT06511 United States Astronomy Department Universidad de Concepción Casilla 160-C Concepción Chile Department of Physics University of Illinois 1110 West Green Street UrbanaIL61801 United States Fermi National Accelerator Laboratory MS209 P.O. Box 500 BataviaIL60510 United States Department of Astronomy and Astrophysics University of Chicago 5640 South Ellis Avenue ChicagoIL60637 United States East Asian Observatory 660 N. A’ohoku Place HiloHI96720 United States 660 N. A’ohoku Place HiloHI

The first images of the black holes in Sgr A∗ and M87∗ have created a wide range of new scientific opportunities in gravitational physics, compact objects, and relativistic astrophysics. We discuss here the scientific... 详细信息

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