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New mechanistic insights into hereditary spastic paraplegias
Masud Husain
doi : 10.1093/brain/awac288
Brain, Volume 145, Issue 9, September 2022, Pages 2937–2938
Catatonia: looking back and moving forward
Dusan Hirjak, Robert Christian Wolf, G Bernhard Landwehrmeyer, Georg Northoff
doi : 10.1093/brain/awac196
Reading to the end(foot): translational readthrough of AQP4 increases amyloid-β clearance
Michael J Giannetto, Lauren M Hablitz
doi : 10.1093/brain/awac289
Extracellular vesicles and seeding amplification: a step closer to a Parkinson’s disease blood test
Ivan Martinez-Valbuena, Gabor G Kovacs, Anthony E. Lang
doi : 10.1093/brain/awac292
Brain atrophy in idiopathic REM sleep behaviour disorder is a sign of incipient synucleinopathy
Dario Arnaldi, Pietro Mattioli
doi : 10.1093/brain/awac242
Forced but effective partners in crime: how astrocytes drive the progression of glioblastoma
Kai Murk, Robert Hülse
doi : 10.1093/brain/awac302
Understanding the multidimensional cognitive deficits of logopenic variant primary progressive aphasia
Siddharth Ramanan, Muireann Irish, Karalyn Patterson, James B Rowe, Maria Luisa Gorno-Tempini, Matthew A Lambon Ralph
doi : 10.1093/brain/awac208
Understanding the effects of serotonin in the brain through its role in the gastrointestinal tract
James M Shine, Claire O’Callaghan, Ishan C Walpola, Gabriel Wainstein, Natasha Taylor, Jaan Aru, Bryce Huebner, Yohan J John
doi : 10.1093/brain/awac256
Aqp4 stop codon readthrough facilitates amyloid-β clearance from the brain
Darshan Sapkota, Colin Florian, Brookelyn M Doherty, Kelli M White, Kate M Reardon, Xia Ge, Joel R Garbow, Carla M Yuede, John R Cirrito, Joseph D Dougherty
doi : 10.1093/brain/awac199
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D Fenger, Ahmed Eltokhi, Maert Rannap, Nils A Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Sterbova, Petra Lassuthová, Marketa Vlckova, Johannes R Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M Rho, Alice W Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina E Hoei-Hansen, Pasquale Striano, Federico Zara, Helene Verhelst, Judith S Verhoeven, Hilde M H Braakman, Bert van der Zwaag, Aster V E Harder, Eva Brilstra, Manuela Pendziwiat, Sebastian Lebon, Maria Vaccarezza, Ngoc Minh Le, Jakob Christensen, Sabine Grønborg, Stephen W Scherer, Jennifer Howe, Walid Fazeli, Katherine B Howell, Richard Leventer, Chloe Stutterd, Sonja Walsh, Marion Gerard, Bénédicte Gerard, Sara Matricardi, Claudia M Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman-Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cecilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frederic Bilan, Daniel Tibussek, Margarete Koch-Hogrebe, M Scott Perry, Shoji Ichikawa, Elena Dadali, Artem Sharkov, Irina Mishina, Mikhail Abramov, Ilya Kanivets, Sergey Korostelev, Sergey Kutsev, Karen E Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M Savatt, Karen Müller-Schlüter, Haim Bassan, Artem Borovikov, Marie Cecile Nassogne, Anne Destrée, An Sofie Schoonjans, Marije Meuwissen, Marga Buzatu, Anna Jansen, Emmanuel Scalais, Siddharth Srivastava, Wen Hann Tan, Heather E Olson, Tobias Loddenkemper, Annapurna Poduri, Katherine L Helbig, Ingo Helbig, Mark P Fitzgerald, Ethan M Goldberg, Timo Roser, Ingo Borggraefe, Tobias Brünger, Patrick May, Dennis Lal, Damien Lederer, Guido Rubboli, Henrike O Heyne, Gaetan Lesca, Ulrike B S Hedrich, Jan Benda, Elena Gardella, Holger Lerche, Rikke S Møller
doi : 10.1093/brain/awab321
Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy
Yi Hong Liu, Ying Tsen Chou, Fu Pang Chang, Wei Ju Lee, Yuh Cherng Guo, Cheng Ta Chou, Hui Chun Huang, Takeshi Mizuguchi, Chien Chen Chou, Hsiang Yu Yu, Kai Wei Yu, Hsiu Mei Wu, Pei Chien Tsai, Naomichi Matsumoto, Yi Chung Lee, Yi Chu Liao
doi : 10.1093/brain/awac135
Mutations in TAF8 cause a neurodegenerative disorder
Keit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, Vincenzo Salpietro, Meredith Sanchez-Castillo, Janice Yip, Yamna Kriouile, Susann Diegmann, Steffi Dreha-Kulaczewski, Janine Altmüller, Holger Thiele, Peter Nürnberg, Mehran Beiraghi Toosi, Javad Akhondian, Ehsan Ghayoor Karimiani, Hannah Hummel-Abmeier, Brenda Huppke, Henry Houlden, Jutta Gärtner, Reza Maroofian, Peter Huppke
doi : 10.1093/brain/awac154
Distinct subcellular autophagy impairments in induced neurons from patients with Huntington's disease
Karolina Pircs, Janelle Drouin-Ouellet, Vivien Horváth, Jeovanis Gil, Melinda Rezeli, Raquel Garza, Daniela A Grassi, Yogita Sharma, Isabelle St-Amour, Kate Harris, Marie E Jönsson, Pia A Johansson, Romina Vuono, Shaline V Fazal, Thomas Stoker, Bob A Hersbach, Kritika Sharma, Jessica Lagerwall, Stina Lagerström, Petter Storm, Sébastien S Hébert, György Marko-Varga, Malin Parmar, Roger A Barker, Johan Jakobsson
doi : 10.1093/brain/awab473
Detection of neuron-derived pathological α-synuclein in blood
Annika Kluge, Josina Bunk, Eva Schaeffer, Alice Drobny, Wei Xiang, Henrike Knacke, Simon Bub, Wiebke Lückstädt, Philipp Arnold, Ralph Lucius, Daniela Berg, Friederike Zunke
doi : 10.1093/brain/awac115
Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4
Annapoorna Kannan, Juliana Cuartas, Pratik Gangwani, Dana Branzei, Laxman Gangwani
doi : 10.1093/brain/awab464
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia
Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Amna Mohammed Al-Futaisi, Fathiya Al-Murshedi, Joanna Kennedy, Jacob O Day, Thomas Courtin, Aisha Al-Khayat, Hamid Galedari, Neda Mazaheri, Margherita Protasoni, Mark Johnson, Joseph S Leslie, Claire G Salter, Lettie E Rawlins, James Fasham, Almundher Al-Maawali, Nikol Voutsina, Perrine Charles, Laura Harrold, Boris Keren, Edmund R S Kunji, Barbara Vona, Gholamreza Jelodar, Alireza Sedaghat, Gholamreza Shariati, Henry Houlden, Andrew H Crosby, Julien Prudent, Emma L Baple
doi : 10.1093/brain/awac123
Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord
Benjamin G Trist, Sian Genoud, Stéphane Roudeau, Alexander Rookyard, Amr Abdeen, Veronica Cottam, Dominic J Hare, Melanie White, Jens Altvater, Jennifer A Fifita, Alison Hogan, Natalie Grima, Ian P Blair, Kai Kysenius, Peter J Crouch, Asuncion Carmona, Yann Rufin, Stéphane Claverol, Stijn Van Malderen, Gerald Falkenberg, David J Paterson, Bradley Smith, Claire Troakes, Caroline Vance, Christopher E Shaw, Safa Al-Sarraj, Stuart Cordwell, Glenda Halliday, Richard Ortega, Kay L Double
doi : 10.1093/brain/awac165
Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegia
Tania Rizo, Lisa Gebhardt, Julia Riedlberger, Esther Eberhardt, Lars Fester, Dalia Alansary, Jürgen Winkler, Soeren Turan, Philipp Arnold, Barbara A Niemeyer, Michael J M Fischer, Beate Winner
doi : 10.1093/brain/awac122
How patients with multiple sclerosis acquire disability
Fred D Lublin, Dieter A Häring, Habib Ganjgahi, Alex Ocampo, Farhad Hatami, Jelena Čuklina, Piet Aarden, Frank Dahlke, Douglas L Arnold, Heinz Wiendl, Tanuja Chitnis, Thomas E Nichols, Bernd C Kieseier, Robert A Bermel
doi : 10.1093/brain/awac016
Brain atrophy in prodromal synucleinopathy is shaped by structural connectivity and gene expression
Shady Rahayel, Christina Tremblay, Andrew Vo, Ying Qiu Zheng, Stéphane Lehéricy, Isabelle Arnulf, Marie Vidailhet, Jean Christophe Corvol, ICEBERG Study Group , Jean François Gagnon, Ronald B Postuma, Jacques Montplaisir, Simon Lewis, Elie Matar, Kaylena Ehgoetz Martens, Per Borghammer, Karoline Knudsen, Allan Hansen, Oury Monchi, Bratislav Misic, Alain Dagher
doi : 10.1093/brain/awac187
Progression of cerebral white matter hyperintensities is related to leucocyte gene expression
Glen C Jickling, Bradley P Ander, Xinhua Zhan, Boryana Stamova, Heather Hull, Charles DeCarli, Frank R Sharp
doi : 10.1093/brain/awac107
Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain
YouJin Lee, Morgan R Miller, Marty A Fernandez, Elizabeth L Berg, Adriana M Prada, Qing Ouyang, Michael Schmidt, Jill L Silverman, Tracy L Young-Pearse, Eric M Morrow
doi : 10.1093/brain/awab467
Widespread white matter oedema in subacute COVID-19 patients with neurological symptoms
Alexander Rau, Nils Schroeter, Ganna Blazhenets, Andrea Dressing, Lea I Walter, Elias Kellner, Tobias Bormann, Hansjörg Mast, Dirk Wagner, Horst Urbach, Cornelius Weiller, Philipp T Meyer, Marco Reisert, Jonas A Hosp
doi : 10.1093/brain/awac045
Elucidating the relationship between migraine risk and brain structure using genetic data
Brittany L Mitchell, Santiago Diaz-Torres, Svetlana Bivol, Gabriel Cuellar-Partida, International Headache Genetics Consortium , Zachary F Gerring, Nicholas G Martin, Sarah E Medland, Katrina L Grasby, Dale R Nyholt, Miguel E RenterÃa
doi : 10.1093/brain/awac105
Circadian rhythmicity of pain sensitivity in humans
Inès Daguet, Véronique Raverot, Didier Bouhassira, Claude Gronfier
doi : 10.1093/brain/awac147
Clearance of variant Creutzfeldt–Jakob disease prions in vivo by the Hsp70 disaggregase system
Alana M Thackray, Brian Lam, Erin E McNulty, Amy V Nalls, Candace K Mathiason, Srivathsa Subramanya Magadi, Walker S Jackson, Olivier Andréoletti, Cristóbal Marrero-Winkens, Hermann Schätzl, Raymond Bujdoso
doi : 10.1093/brain/awac144
A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders
Megan Conrow-Graham, Jamal B Williams, Jennifer Martin, Ping Zhong, Qing Cao, Benjamin Rein, Zhen Yan
doi : 10.1093/brain/awac152
Association between brain metabolism and clinical course of motor functional neurological disorders
Ismael Conejero, Laurent Collombier, Jorge Lopez-Castroman, Thibault Mura, Sandrine Alonso, Emilie Olié, Vincent Boudousq, Fabrice Boulet, Caroline Arquizan, Charlotte Boulet, Anne Wacongne, Camille Heitz, Christel Castelli, Stéphane Mouchabac, Philippe Courtet, Mocrane Abbar, Eric Thouvenot
doi : 10.1093/brain/awac146
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
Nataliya Di Donato, Renzo Guerrini, Charles J Billington, Jr, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman G Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, Richard I Webster, Mary J H Willis, Maha S Zaki, Joseph G Gleeson, Richard J Leventer, William B Dobyns
doi : 10.1093/brain/awac164
Astrocyte immunometabolic regulation of the tumour microenvironment drives glioblastoma pathogenicity
Rita Perelroizen, Bar Philosof, Noga Budick-Harmelin, Tom Chernobylsky, Ariel Ron, Rotem Katzir, Dor Shimon, Adi Tessler, Orit Adir, Anat Gaoni-Yogev, Tom Meyer, Avivit Krivitsky, Nuphar Shidlovsky, Asaf Madi, Eytan Ruppin, Lior Mayo
doi : 10.1093/brain/awac222
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C Mak, Julian A Martinez-Agosto, Michael B Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M B Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, Undiagnosed Diseases Network , Telethon Undiagnosed Diseases Program , Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Koh ichi Nagata
doi : 10.1093/brain/awac106
Vitamins B6 and B12, levodopa, and their complex interactions in patients with Parkinson’s disease
Karlo J Lizárraga, Anthony E Lang
doi : 10.1093/brain/awac225
Reply: Vitamins B6 and B12, levodopa, and their complex interactions in patients with Parkinson’s disease
Ana Sardoeira, Nuno Vila-Chã, Marta Corrá, Ana Paula Sousa, Walter Maetzler, LuÃs F Maia
doi : 10.1093/brain/awac248
Correction to: Cholinergic neurotransmitter system: a potential marker for post-stroke cognitive recovery
doi : 10.1093/brain/awac251
