Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study

Autor: Pérez-Millan, Agnès, Borrego-Écija, Sergi, van Swieten, John C., Jiskoot, Lize, Moreno, Fermin, Laforce, Robert, Graff, Caroline, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B., Borroni, Barbara, Finger, Elizabeth, Synofzik, Matthis, Galimberti, Daniela, Vandenberghe, Rik, de Mendonça, Alexandre, Butler, Chris R., Gerhard, Alexander, Ducharme, Simon, Le Ber, Isabelle, Santana, Isabel, Pasquier, Florence, Levin, Johannes, Otto, Markus, Sorbi, Sandro, Tiraboschi, Pietro, Seelaar, Harro, Langheinrich, Tobias, Rohrer, Jonathan D., Sala-Llonch, Roser, Sánchez-Valle, Raquel, GENFI The Genetic FTD Initiative, Ullgren, Abbe, Rollin, Adeline, Camuzat, Agnès, Esteve, Aitana Sogorb, Gabilondo, Alazne, Lladó, Albert, Benussi, Alberto, Brice, Alexis, Gorostidi, Ana, Verdelho, Ana, Arighi, Andrea, Antonell, Anna, Bertrand, Anne, Engel, Annerose, Vogels, Annick, Bouzigues, Arabella, Funkiewiez, Aurélie, Nacmias, Benedetta, Bender, Benjamin, Ferrari, Camilla, Wilke, Carlo, Heller, Carolin, Maruta, Carolina, Greaves, Caroline V., Timberlake, Carolyn, Ferreira, Catarina B., Prix, Catharina, Fenoglio, Chiara, Shoesmith, Christen, Polito, Cristina, Rinaldi, Daisy, Saracino, Dario, Cash, David, Thomas, David L., Tang-Wai, David, Duro, Diana, Rogaeva, Ekaterina, Scarpini, Elio, Wlasich, Elisabeth, Buratti, Emanuele, Todd, Emily, Premi, Enrico, do Couto, Frederico Simões, Miltenberger, Gabriel, Lombardi, Gemma, Rossi, Giacomina, Fumagalli, Giorgio, Giaccone, Giorgio, Di Fede, Giuseppe, Kuchcinski, Gregory, Benotmane, Hanya, Zetterberg, Henrik, Swift, Imogen J., Poos, Jackie, M. Papma, Janne, Nicholas, Jennifer, Durães, João, Lombardi, Jolina, Juncà-Parella, Jordi, Sarto, Jordi, Villanua, Jorge, Samra, Kiran, Poesen, Koen, Öijerstedt, Linn, Graf, Lisa, Giannini, Lucia, Russell, Lucy L., Leitão, Maria João, Almeida, Maria Rosario, Serpente, Maria, Lima, Marisa, Cañada, Marta, Bocchetta, Martina, Polyakova, Maryna, Vandenbulcke, Mathieu, Bertoux, Maxime, Veldsman, Michele, Castelo-Branco, Miguel, Tábuas-Pereira, Miguel, Tainta, Mikel, Balasa, Mircea, Zulaica, Miren, Freedman, Morris, Barandiaran, Myriam, Bargalló, Nuria, Wagemann, Olivia, Colliot, Olivier, Caroppo, Paola, Alves, Patricia, Thompson, Paul, Rosa-Neto, Pedro, Van Damme, Philip, Shafei, Rachelle, Convery, Rhian S., van Minkelen, Rick, Bartha, Robart, Gasparotti, Roberto, Keren, Ron, Rademakers, Rosa, Bruffaerts, Rose, Sayah, Sabrina, Black, Sandra, Loosli, Sandra, Mitchell, Sara, Prioni, Sara, Anderl-Straub, Sarah, Gauthier, Serge, Afonso, Sónia, Schönecker, Sonja, Gazzina, Stefano, Lebouvier, Thibaud, Cope, Thomas, Rittman, Timothy, Hoegen, Tobias, Bessi, Valentina, Cantoni, Valentina, Redaelli, Veronica, Jelic, Vesna, Deramecourt, Vincent, Borracci, Vittoria

Publikováno v: Journal of neurology
Journal of neurology 270(3), 1573-1586 (2022). doi:10.1007/s00415-022-11435-x

Background and objectives The C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD) and/or motor neuron disease (MND). Corticospinal degeneration has been described in post-mortem neuropathological studies in these patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b2afc542f6412fadfd24dab268155c
https://doi.org/10.1007/s00415-022-11435-x

Increased pyroptosis activation in white matter microglia is associated with neuronal loss in ALS motor cortex

Autor: Evelien Van Schoor, Simona Ospitalieri, Sebastiaan Moonen, Sandra O. Tomé, Alicja Ronisz, Orkun Ok, Jochen Weishaupt, Albert C. Ludolph, Philip Van Damme, Ludo Van Den Bosch, Dietmar Rudolf Thal

Publikováno v: Acta neuropathologica 144(3), 393-411 (2022). doi:10.1007/s00401-022-02466-9

Amyotrophic lateral sclerosis (ALS) is characterized by the degeneration of motor neurons in the motor cortex, brainstem, and spinal cord. Although ALS is considered a motor neuron disorder, neuroinflammation also plays an important role. Recent evid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec3c53395a7b4e2afdc364d08dc754e8
https://pubmed.ncbi.nlm.nih.gov/35867112

White matter hyperintensity burden in acute stroke patients differs by ischemic stroke subtype

Autor: Tatjana Rundek, Ona Wu, Ramesh Sridharan, Vincent Thijs, Marco Nardin, Daniel Woo, Bradford B. Worrall, Christina Jern, Ralph L. Sacco, Steven J. T. Mocking, Pankaj Sharma, Agnieszka Slowik, Steven J. Kittner, Anne-Katrin Giese, Braxton D. Mitchell, Elissa C. McIntosh, Jordi Jimenez-Conde, Markus D. Schirmer, Polina Golland, John W. Cole, Arne Lindgren, Robin Lemmens, Adrian V. Dalca, Eva Giralt-Steinhauer, Dawn Kleindorfer, Reinhold Schmidt, Natalia S. Rost, Jonathan Rosand, Patrick F. McArdle, Johan Wassélius, Huichun Xu, James F. Meschia, Robert E. Irie, Kathleen L. Donahue

Publikováno v: Neurology 95(1), e79-e88 (2020). doi:10.1212/WNL.0000000000009728
Neurology

ObjectiveTo examine etiologic stroke subtypes and vascular risk factor profiles and their association with white matter hyperintensity (WMH) burden in patients hospitalized for acute ischemic stroke (AIS).MethodsFor the MRI Genetics Interface Explora

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6166f6af647911d062d09aaeb935f5cf
https://doi.org/10.1212/wnl.0000000000009728

A fluorescence microscopy-based protocol for volumetric measurement of lysolecithin lesion-associated de- and re-myelination in mouse brain

Autor: Mar Bosch-Queralt, Vini Tiwari, Alkmini Damkou, Lenka Vaculčiaková, Ioannis Alexopoulos, Mikael Simons

Publikováno v: STAR Protocols
STAR Protocols 3(1), 101141 (2022). doi:10.1016/j.xpro.2022.101141
Europe PubMed Central
STAR Protocols, Vol 3, Iss 1, Pp 101141-(2022)

Summary: Lysolecithin injections into the white matter tracts of the central nervous system are a valuable tool to study remyelination, but evaluating the resulting demyelinating lesion size is challenging. Here, we present a protocol to consistently

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02956acb13dcfcec3de19cd8438f8527
https://hdl.handle.net/21.11116/0000-0009-EFDF-021.11116/0000-0009-EFE1-C

Detection of spinal long fiber tract degeneration in HSP: Improved diffusion tensor imaging

Autor: Tobias, Lindig, Christer, Ruff, Tim W, Rattay, Stephan, König, Ludger, Schöls, Rebecca, Schüle, Thomas, Nägele, Ulrike, Ernemann, Uwe, Klose, Benjamin, Bender

Publikováno v: NeuroImage: Clinical 36, 103213 (2022). doi:10.1016/j.nicl.2022.103213

Spinal diffusion tensor imaging (sDTI) is still a challenging technique for selectively evaluating anatomical areas like the pyramidal tracts (PT), dorsal columns (DC), and anterior horns (AH) in clinical routine and for reliably quantifying white ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::06df33d8f13eb963c6b646b990470125
https://pub.dzne.de/record/165324