Gradient of microstructural damage along the dentato‐thalamo‐cortical tract in Friedreich ataxia

Autor: Sirio Cocozza, Sara Bosticardo, Matteo Battocchio, Louise Corben, Martin Delatycki, Gary Egan, Nellie Georgiou‐Karistianis, Serena Monti, Giuseppe Palma, Chiara Pane, Francesco Saccà, Simona Schiavi, Louisa Selvadurai, Mario Tranfa, Alessandro Daducci, Arturo Brunetti, Ian H. Harding

Publikováno v: Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1691-1702 (2024)

Abstract Objective The dentato‐thalamo‐cortical tract (DTT) is the main cerebellar efferent pathway. Degeneration of the DTT is a core feature of Friedreich ataxia (FRDA). However, it remains unclear whether DTT disruption is spatially specific,

Externí odkaz: https://doaj.org/article/d4eb1b573f2a4570a1fdf5b47c296bef

Mixed longitudinal and cross-sectional analyses of deep gray matter and white matter using diffusion weighted images in premanifest and manifest Huntington’s disease

Autor: Beini Hu, Laurent Younes, Xuan Bu, Chin-Fu Liu, J. Tilak Ratnanather, Jane Paulsen, Nellie Georgiou-Karistianis, Michael I. Miller, Christopher Ross, Andreia V. Faria

Publikováno v: NeuroImage: Clinical, Vol 39, Iss , Pp 103493- (2023)

Changes in the brain of patients with Huntington's disease (HD) begin years before clinical onset, so it remains critical to identify biomarkers to track these early changes. Metrics derived from tensor modeling of diffusion-weighted MRIs (DTI), that

Externí odkaz: https://doaj.org/article/b545347e1d73406e9745918844e75b31

A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.

Autor: Nellie Georgiou-Karistianis, Louise A Corben, Kathrin Reetz, Isaac M Adanyeguh, Manuela Corti, Dinesh K Deelchand, Martin B Delatycki, Imis Dogan, Rebecca Evans, Jennifer Farmer, Marcondes C França, William Gaetz, Ian H Harding, Karen S Harris, Steven Hersch, Richard Joules, James J Joers, Michelle L Krishnan, Michelle Lax, Eric F Lock, David Lynch, Thomas Mareci, Sahan Muthuhetti Gamage, Massimo Pandolfo, Marina Papoutsi, Thiago J R Rezende, Timothy P L Roberts, Jens T Rosenberg, Sandro Romanzetti, Jörg B Schulz, Traci Schilling, Adam J Schwarz, Sub Subramony, Bert Yao, Stephen Zicha, Christophe Lenglet, Pierre-Gilles Henry

Publikováno v: PLoS ONE, Vol 17, Iss 11, p e0269649 (2022)

IntroductionDrug development for neurodegenerative diseases such as Friedreich's ataxia (FRDA) is limited by a lack of validated, sensitive biomarkers of pharmacodynamic response in affected tissue and disease progression. Studies employing neuroimag

Externí odkaz: https://doaj.org/article/13b6892396fd4fd9b5968cce8f1724fb

Volumetric MRI-Based Biomarkers in Huntington's Disease: An Evidentiary Review

Autor: Kirsi M. Kinnunen, Adam J. Schwarz, Emily C. Turner, Dorian Pustina, Emily C. Gantman, Mark F. Gordon, Richard Joules, Ariana P. Mullin, Rachael I. Scahill, Nellie Georgiou-Karistianis, The Huntington's Disease Regulatory Science Consortium (HD-RSC), Varun Aggarwal, Shazia Ali, Irina Antonijevic, Astri Arnesen, Nazem Atassi, Brian Beers, Beth Belluscio, Limor Ben Har, Angele Benard, Caroline Benn, Brian Bettencourt, Anu Bhattacharyya, Robi Blumenstein, Beth Borowsky, Bret Bostwick, Jackson Burton, Angelika Caputo, David Cooper, Brad Elmer, Rebecca Evans, Andrew Feigen, Terrence Fisher, Rebecca Fuller, Emily Gantman, Danielle Gartner, Michal Geva, Sandra Gonzalez, Adam Good, Mark Gordon, Jaya Goyal, Michael Hayden, Priyantha Herath, Steve Hersch, Jianying Hu, Elise Kayson, Eileen Koski, Bernhard Landwehrmeyer, Michelle Lax, Blair Leavitt, Dorothy Leong, Oren Levy, Enchi Liu, Jeff Long, Doug Macdonald, Jacqueline Major, Lahar Mehta, Tiago Mestre, Eric Miller, Christian Mueller, Catherine O'Riordan, Jennifer Panagoulias, Mike Panzara, Anne Pedata, Jennifer Petrillo-Billet, Dave Podskalny, Alisha Reader, Shelly Redman, Ralf Reilmann, Klaus Romero, Christopher Ross, Anne Rosser, Cristina Sampaio, Jan Samzelius, Scott Schobel, Adam Schwarz, Sudhir Sivakumaran, Jennie Socha, Glenn Stebbins, Julie Stout, Sarah Tabrizi, Emily Turner, Charles Venuto, Louise Vetter, Vissia Viglietta, Sarah Wahlstrom Helgren, Beth White, Ed Wild, George Yohrling, Maurice Zauderer

Publikováno v: Frontiers in Neurology, Vol 12 (2021)

Huntington's disease (HD) is an autosomal-dominant inherited neurodegenerative disorder that is caused by expansion of a CAG-repeat tract in the huntingtin gene and characterized by motor impairment, cognitive decline, and neuropsychiatric disturbanc

Externí odkaz: https://doaj.org/article/ca6c677056d045fbbeff255dc7be3a75

Utility of Huntington's Disease Assessments by Disease Stage: Floor/Ceiling Effects

Autor: Daisy Abreu, Jennifer Ware, Nellie Georgiou-Karistianis, Blair R. Leavitt, Cheryl J. Fitzer-Attas, Raquel Lobo, Ana Raquel Fernandes, Olivia Handley, Karen E. Anderson, Julie C. Stout, Cristina Sampaio

Publikováno v: Frontiers in Neurology, Vol 12 (2021)

Introduction: An understanding of the clinimetric properties of clinical assessments, including their constraints, is critical to sound clinical study and trial design. Utilizing data from Enroll-HD—a global, prospective HD observational study and

Externí odkaz: https://doaj.org/article/4af292b6ce0a4ba7b3b03db1ac9ee739