doi : 10.1093/brain/awad036
Brain, Volume 146, Issue 3, March 2023, Pages 791–792
Robyn Whitney, Puneet Jain
doi : 10.1093/brain/awad018
Brain, Volume 146, Issue 3, March 2023, Pages 796–798
Nick Ward
doi : 10.1093/brain/awad001
Brain, Volume 146, Issue 3, March 2023, Pages 799–800
Lucette A Cysique, Bruce J Brew
doi : 10.1093/brain/awad035
Brain, Volume 146, Issue 3, March 2023, Pages 801–802
Linda Douw, Lucas C Breedt, Mona L M Zimmermann
doi : 10.1093/brain/awad034
Brain, Volume 146, Issue 3, March 2023, Pages 803–805
Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, Stefano C Previtali
doi : 10.1093/brain/awac452
Brain, Volume 146, Issue 3, March 2023, Pages 806–822
Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular disorders characterized by lower motor neuron dysfunction, slowly progressive length-dependent distal muscle weakness and atrophy, without sensory involvement.
Beatriz Achón Buil, Christian Tackenberg, Ruslan Rust
doi : 10.1093/brain/awac393
Brain, Volume 146, Issue 3, March 2023, Pages 823–841
Stem cell therapy has been shown to improve stroke outcomes in animal models and is currently advancing towards clinical practice. However, uncertainty remains regarding the optimal route for cell delivery to the injured brain. Local intracerebral injections are effective in precisely delivering cells into the stroke cavity but carry the risk of damaging adjacent healthy tissue.
Robert Perneczky, Frank Jessen, Timo Grimmer, Johannes Levin, Agnes Flöel, Oliver Peters, Lutz Froelich
doi : 10.1093/brain/awad005
Brain, Volume 146, Issue 3, March 2023, Pages 842–849
After years of failed attempts to develop a disease-modifying therapy for Alzheimer’s disease, consistent evidence in support of clinical efficacy was finally presented for a monoclonal antibody targeting the amyloid-β protofibrils.
Faye McLeod, Anna Dimtsi, Amy C Marshall, David Lewis-Smith, Rhys Thomas, Gavin J Clowry, Andrew J Trevelyan
doi : 10.1093/brain/awac396
Brain, Volume 146, Issue 3, March 2023, Pages 850–857
Early infantile developmental and epileptic encephalopathies are devastating conditions, generally of genetic origin, but the pathological mechanisms often remain obscure.
Claire Pujol, Elise Lebigot, Pauline Gaignard, Said Galai, Ichraf Kraoua, Jean-Philippe Bault, Rodolphe Dard, Ilhem Ben Youssef-Turki, Souheil Omar, Audrey Boutron, Timothy Wai, Abdelhamid Slama
doi : 10.1093/brain/awac444
Brain, Volume 146, Issue 3, March 2023, Pages 858–864
Pyruvate is an essential metabolite produced by glycolysis in the cytosol and must be transported across the inner mitochondrial membrane into the mitochondrial matrix, where it is oxidized to fuel mitochondrial respiration.
Ying Meng, Maged Goubran, Jennifer S Rabin, Melissa McSweeney, Julie Ottoy, Christopher B Pople, Yuexi Huang, Alexandra Storace, Miracle Ozzoude, Allison Bethune, Benjamin Lam, Walter Swardfager, Chinthaka Heyn, Agessandro Abrahao, Benjamin Davidson, Clement Hamani, Isabelle Aubert, Henrik Zetterberg, Nicholas J Ashton, Thomas K Karikari, Kaj Blennow, Sandra E Black, Kullervo Hynynen, Nir Lipsman
doi : 10.1093/brain/awac459
Brain, Volume 146, Issue 3, March 2023, Pages 865–872
The blood–brain barrier (BBB) protects the brain but is also an important obstacle for the effective delivery of therapeutics in Alzheimer’s disease and other neurodegenerative disorders.
Katharina Schiller, Saoussen Berrahmoune, Christelle Dassi, Isabelle Corriveau, Taghreed A Ayash, Bradley Osterman, Chantal Poulin, Michael I Shevell, Elisabeth Simard-Tremblay, Guillaume Sébire, Kenneth A Myers
doi : 10.1093/brain/awac380
Brain, Volume 146, Issue 3, March 2023, Pages 873–879
Memantine is an N-methyl-D-aspartate receptor antagonist, approved for dementia treatment. There is limited evidence of memantine showing benefit for paediatric neurodevelopmental phenotypes, but no randomized placebo-controlled trials in children with developmental and epileptic encephalopathy.
Anthony N Cutrupi, Ramesh K Narayanan, Gonzalo Perez-Siles, Bianca R Grosz, Kaitao Lai, Alexandra Boyling, Melina Ellis, Ruby C Y Lin, Brent Neumann, Di Mao, Motonari Uesugi, Garth A Nicholson, Steve Vucic, Mario A Saporta, Marina L Kennerson
doi : 10.1093/brain/awac424
Brain, Volume 146, Issue 3, March 2023, Pages 880–897
Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons.
Giovanni Oliveros, Charles H Wallace, Osama Chaudry, Qiao Liu, Yue Qiu, Lei Xie, Patricia Rockwell, Maria E Figueiredo-Pereira, Peter A Serrano
doi : 10.1093/brain/awac136
Brain, Volume 146, Issue 3, March 2023, Pages 898–911
Alzheimer’s disease is a multifactorial disease that exhibits cognitive deficits, neuronal loss, amyloid plaques, neurofibrillary tangles and neuroinflammation in the brain. Hence, a multi-target drug would improve treatment efficacy.
Sissel Løseth, Helle Høyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Øivind Nilssen, Geir Julius Braathen
doi : 10.1093/brain/awac488
Brain, Volume 146, Issue 3, March 2023, Pages 912–922
We describe five families from different regions in Norway with a late-onset autosomal-dominant hereditary polyneuropathy sharing a heterozygous variant in the SLC12A6 gene.
Tobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, Michael Nothnagel, Rikke S Møller, Stephanie Schorge, Sameer Zuberi, Joseph Symonds, Johannes R Lemke, Andreas Brunklaus, Stephen F Traynelis, Patrick May, Dennis Lal
doi : 10.1093/brain/awac305
Brain, Volume 146, Issue 3, March 2023, Pages 923–934
Clinically identified genetic variants in ion channels can be benign or cause disease by increasing or decreasing the protein function. As a consequence, therapeutic decision-making is challenging without molecular testing of each variant.
Lorenzo Caciagli, Casey Paquola, Xiaosong He, Christian Vollmar, Maria Centeno, Britta Wandschneider, Urs Braun, Karin Trimmel, Sjoerd B Vos, Meneka K Sidhu, Pamela J Thompson, Sallie Baxendale, Gavin P Winston, John S Duncan, Dani S Bassett, Matthias J Koepp, Boris C Bernhardt
doi : 10.1093/brain/awac150
Brain, Volume 146, Issue 3, March 2023, Pages 935–953
Cognitive impairment is a common comorbidity of epilepsy and adversely impacts people with both frontal lobe (FLE) and temporal lobe (TLE) epilepsy. While its neural substrates have been investigated extensively in TLE, functional imaging studies in FLE are scarce.
Michael S Pollanen, Sylvester Onzivua, Paul M McKeever, Janice Robertson, Ian R Mackenzie, Gabor G Kovacs, Francis Olwa, David L Kitara, Amanda Fong
doi : 10.1093/brain/awac137
Brain, Volume 146, Issue 3, March 2023, Pages 954–967
Nodding syndrome is an enigmatic recurrent epidemic neurologic disease that affects children in East Africa. The illness begins with vertical nodding of the head and can progress to grand mal seizures and death after several years.
Ariane Soldatos, Thomas B Nutman, Tory Johnson, Scott F Dowell, James J Sejvar, Michael R Wilson, Joseph L DeRisi, Sara K Inati, Catherine Groden, Colleen Evans, Elise M O’Connell, Bernard Opar Toliva, Jane R Aceng, Josephine Aryek-Kwe, Camilo Toro, Constantine A Stratakis, A Gretchen Buckler, Cathy Cantilena, Tara N Palmore, Audrey Thurm, Eva H Baker, Richard Chang, Harper Fauni, David Adams, Ellen F Macnamara, C Christopher Lau, May Christine V Malicdan, Barbara Pusey-Swerdzewski, Robert Downing, Sudhir Bunga, Jerry D Thomas, William A Gahl, Avindra Nath
doi : 10.1093/brain/awac357
Brain, Volume 146, Issue 3, March 2023, Pages 968–976
The aetiology of nodding syndrome remains unclear, and comprehensive genotyping and phenotyping data from patients remain sparse. Our objectives were to characterize the phenotype of patients with nodding syndrome, investigate potential contributors to disease aetiology, and evaluate response to immunotherapy.
Christine Strippel, Marisol Herrera-Rivero, Mareike Wendorff, Anja K Tietz, Frauke Degenhardt, Anika Witten, Christina Schroeter, Christopher Nelke, Kristin S Golombeck, Marie Madlener, Theodor Rüber, Leon Ernst, Attila Racz, Tobias Baumgartner, Guido Widman, Kathrin Doppler, Franziska Thaler, Kai Siebenbrodt, Andre Dik, Constanze Kerin, Saskia Räuber, Marco Gallus, Stjepana Kovac, Oliver M Grauer, Alexander Grimm, Harald Prüss, Jonathan Wickel, Christian Geis, Jan Lewerenz, Norbert Goebels, Marius Ringelstein, Til Menge, Björn Tackenberg, Christoph Kellinghaus, Christian G Bien, Andrea Kraft, Uwe Zettl, Fatme Seval Ismail, Ilya Ayzenberg, Christian Urbanek, Kurt-Wolfram Sühs, Simone C Tauber, Sigrid Mues, Peter Körtvélyessy, Robert Markewitz, Asterios Paliantonis, Christian E Elger, Rainer Surges, Claudia Sommer, Tania Kümpfel, Catharina C Gross, Holger Lerche, Jörg Wellmer, Carlos M Quesada, Florian Then Bergh, Klaus-Peter Wandinger, Albert J Becker, Wolfram S Kunz, Gerd Meyer zu Hörste, Michael P Malter, Felix Rosenow, Heinz Wiendl, Gregor Kuhlenbäumer, Frank Leypoldt, Wolfgang Lieb, Andre Franke, Sven G Meuth, Monika Stoll, Nico Melzer, German Network for Research on Autoimmune Encephalitis (GENERATE)
doi : 10.1093/brain/awac119
Brain, Volume 146, Issue 3, March 2023, Pages 977–990
Autoimmune neurological syndromes (AINS) with autoantibodies against the 65 kDa isoform of the glutamic acid decarboxylase (GAD65) present with limbic encephalitis, including temporal lobe seizures or epilepsy, cerebellitis with ataxia, and stiff-person-syndrome or overlap forms. Anti-GAD65 autoantibodies are also detected in autoimmune diabetes mellitus, which has a strong genetic susceptibility conferred by human leukocyte antigen (HLA) and non-HLA genomic regions. We investigated the genetic predisposition in patients with anti-GAD65 AINS.
Hendrik J Greve, August L Dunbar, Carla Garza Lombo, Chandrama Ahmed, Morrent Thang, Evan J Messenger, Christen L Mumaw, James A Johnson, Jr, Urmila P Kodavanti, Adrian L Oblak, Michelle L Block
doi : 10.1093/brain/awac113
Brain, Volume 146, Issue 3, March 2023, Pages 991–1005
The mechanisms underlying how urban air pollution affects Alzheimer’s disease (AD) are largely unknown. Ozone (O3) is a reactive gas component of air pollution linked to increased AD risk, but is confined to the respiratory tract after inhalation, implicating the peripheral immune response to air pollution in AD neuropathology.
Lukas Hensel, Fabian Lange, Caroline Tscherpel, Shivakumar Viswanathan, Jana Freytag, Lukas J Volz, Simon B Eickhoff, Gereon R Fink, Christian Grefkes
doi : 10.1093/brain/awac157
Brain, Volume 146, Issue 3, March 2023, Pages 1006–1020
Activity changes in the ipsi- and contralesional parietal cortex and abnormal interhemispheric connectivity between these regions are commonly observed after stroke, however, their significance for motor recovery remains poorly understood.
Stephen M Wilson, Jillian L Entrup, Sarah M Schneck, Caitlin F Onuscheck, Deborah F Levy, Maysaa Rahman, Emma Willey, Marianne Casilio, Melodie Yen, Alexandra C Brito, Wayneho Kam, L Taylor Davis, Michael de Riesthal, Howard S Kirshner
doi : 10.1093/brain/awac129
Brain, Volume 146, Issue 3, March 2023, Pages 1021–1039,
Most individuals who experience aphasia after a stroke recover to some extent, with the majority of gains taking place in the first year. The nature and time course of this recovery process is only partially understood, especially its dependence on lesion location and extent, which are the most important determinants of outcome. The aim of this study was to provide a comprehensive description of patterns of recovery from aphasia in the first year after stroke.
Marta Gonzalez-Sepulveda, Joan Compte, Thais Cuadros, Alba Nicolau, Camille Guillard-Sirieix, Núria Peñuelas, Marina Lorente-Picon, Annabelle Parent, Jordi Romero-Giménez, Joana M Cladera-Sastre, Ariadna Laguna, Miquel Vila
doi : 10.1093/brain/awac445
Brain, Volume 146, Issue 3, March 2023, Pages 1040–1052
Humans accumulate with age the dark-brown pigment neuromelanin inside specific neuronal groups. Neurons with the highest neuromelanin levels are particularly susceptible to degeneration in Parkinson’s disease, especially dopaminergic neurons of the substantia nigra, the loss of which leads to characteristic motor Parkinson’s disease symptoms.
Nicola J Ray, Rachael A Lawson, Sarah L Martin, Hilmar P Sigurdsson, Joanna Wilson, Brook Galna, Sue Lord, Lisa Alcock, Gordon W Duncan, Tien K Khoo, John T O’Brien, David J Burn, John-Paul Taylor, River C Rea, Maurizio Bergamino, Lynn Rochester, Alison J Yarnall
doi : 10.1093/brain/awac127
Brain, Volume 146, Issue 3, March 2023, Pages 1053–1064
Free-water imaging can predict and monitor dopamine system degeneration in people with Parkinson’s disease. It can also enhance the sensitivity of traditional diffusion tensor imaging (DTI) metrics for indexing neurodegeneration.
Vincenzo Donadio, Alex Incensi, Giovanni Rizzo, Gunilla T Westermark, Grazia Devigili, Rosa De Micco, Alessandro Tessitore, Dag Nyholm, Sara Parisini, Dag Nyman, Gioacchino Tedeschi, Roberto Eleopra, Martin Ingelsson, Rocco Liguori
doi : 10.1093/brain/awac124
Brain, Volume 146, Issue 3, March 2023, Pages 1065–1074
Multiple system atrophy (MSA) is characterized by accumulation of phosphorylated α-synuclein (p-syn) as glial cytoplasmic inclusions in the brain and a specific biomarker for this disorder is urgently needed. We aimed at investigating if p-syn can also be detected in skin Remak non-myelinating Schwann cells (RSCs) as Schwann cell cytoplasmic inclusions (SCCi) and may represent a reliable clinical biomarker for MSA.
Joanne Trinh, Theresa Lüth, Susen Schaake, Björn-Hergen Laabs, Kathleen Schlüter, Joshua Laβ, Jelena Pozojevic, Ronnie Tse, Inke König, Roland Dominic Jamora, Raymond L Rosales, Norbert Brüggemann, Gerard Saranza, Cid Czarina E Diesta, Frank J Kaiser, Christel Depienne, Christopher E Pearson, Ana Westenberger, Christine Klein
doi : 10.1093/brain/awac160
Brain, Volume 146, Issue 3, March 2023, Pages 1075–1082
While many genetic causes of movement disorders have been identified, modifiers of disease expression are largely unknown. X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease caused by a SINE-VNTR-Alu(AGAGGG)n retrotransposon insertion in TAF1, with a polymorphic (AGAGGG)n repeat. Repeat length and variants in MSH3 and PMS2 explain ∼65% of the variance in age at onset (AAO) in XDP.
Hee-Jin Cho, Jin-Hong Shin, Young-Eun Park, Eunhee Sohn, Tai-Seung Nam, Min-Gu Kang, Jin-Mo Park, Donghwi Park, Jin-Sung Park
doi : 10.1093/brain/awac198
Brain, Volume 146, Issue 3, March 2023, Pages 1083–1092
Spinal and bulbar muscular atrophy, namely Kennedy disease, is a rare progressive neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene on the X chromosome.
Tim W Rattay, Maximilian Völker, Maren Rautenberg, Christoph Kessler, Isabel Wurster, Natalie Winter, Tobias B Haack, Tobias Lindig, Holger Hengel, Matthis Synofzik, Rebecca Schüle, Peter Martus, Ludger Schöls
doi : 10.1093/brain/awac155
Brain, Volume 146, Issue 3, March 2023, Pages 1093–1102
This cohort study aimed to characterize the prodromal phase of hereditary spastic paraplegia type 4 (SPG4) using biomarkers and clinical signs and symptoms that develop before manifest gait abnormalities.
Chiara Vantaggiato, Genny Orso, Giulia Guarato, Francesca Brivio, Barbara Napoli, Elena Panzeri, Simona Masotti, Filippo Maria Santorelli, Maria Lamprou, Sentiljana Gumeni, Emilio Clementi, Maria Teresa Bassi
doi : 10.1093/brain/awac308
Brain, Volume 146, Issue 3, March 2023, Pages 1103–1120
SPG15 is a hereditary spastic paraplegia subtype caused by mutations in Spastizin, a protein encoded by the ZFYVE26 gene. Spastizin is involved in autophagosome maturation and autophagic lysosome reformation and SPG15-related mutations lead to autophagic lysosome reformation defects with lysosome enlargement, free lysosome depletion and autophagosome accumulation.
Robert K Heaton, Ronald J Ellis, Bin Tang, Christina M Marra, Leah H Rubin, David B Clifford, J Allen McCutchan, Benjamin B Gelman, Susan Morgello, Donald R Franklin, Scott L Letendre
doi : 10.1093/brain/awac465
Brain, Volume 146, Issue 3, March 2023, Pages 1121–1131
Modern antiretroviral therapy (ART) has increased longevity of people with HIV and shifted the age distribution of the HIV pandemic upward toward that of the general population.
Charlotte Johansson, Steinunn Thordardottir, José Laffita-Mesa, Elena Rodriguez-Vieitez, Henrik Zetterberg, Kaj Blennow, Caroline Graff
doi : 10.1093/brain/awac399
Brain, Volume 146, Issue 3, March 2023, Pages 1132–1140,
Emerging plasma biomarkers of Alzheimer's disease might be non-invasive tools to trace early Alzheimer's disease-related abnormalities such as the accumulation of amyloid-beta peptides, neurofibrillary tau tangles, glial activation and neurodegeneration.
Emily Eufaula Beaman, Anders Nissen Bonde, Sara Marie Ulv Larsen, Brice Ozenne, Terhi Johanna Lohela, Maiken Nedergaard, Gunnar Hilmar GÃslason, Gitte Moos Knudsen, Sebastian Camillo Holst
doi : 10.1093/brain/awac076
Brain, Volume 146, Issue 3, March 2023, Pages 1141–1151
Alzheimer's disease is a neurodegenerative disorder in which the pathological accumulation of amyloid-β and tau begins years before symptom onset. Emerging evidence suggests that β-blockers (β-adrenergic antagonists) increase brain clearance of these metabolites by enhancing CSF flow.
Fernando Gonzalez-Ortiz, Michael Turton, Przemysław R Kac, Denis Smirnov, Enrico Premi, Roberta Ghidoni, Luisa Benussi, Valentina Cantoni, Claudia Saraceno, Jasmine Rivolta, Nicholas J Ashton, Barbara Borroni, Douglas Galasko, Peter Harrison, Henrik Zetterberg, Kaj Blennow, Thomas K Karikari
doi : 10.1093/brain/awac407
Brain, Volume 146, Issue 3, March 2023, Pages 1152–1165
Blood-based biomarkers for amyloid beta and phosphorylated tau show good diagnostic accuracies and agreements with their corresponding CSF and neuroimaging biomarkers in the amyloid/tau/neurodegeneration [A/T/(N)] framework for Alzheimer’s disease.
Eleonora M Vromen, Sterre C M de Boer, Charlotte E Teunissen, Annemieke Rozemuller, Anne Sieben, Maria Bjerke, for the Alzheimer’s Disease Neuroimaging Initiative, Pieter Jelle Visser, Femke H Bouwman, Sebastiaan Engelborghs, Betty M Tijms
doi : 10.1093/brain/awac158
Brain, Volume 146, Issue 3, March 2023, Pages 1166–1174
The biological definition of Alzheimer’s disease using CSF biomarkers requires abnormal levels of both amyloid (A) and tau (T). However, biomarkers and corresponding cutoffs may not always reflect the presence or absence of pathology.
Marco Massimo, Carlotta Barelli, Catalina Moreno, Chiara Collesi, Rebecca K Holloway, Berta Crespo, Lorena Zentilin, Anna Williams, Veronique E Miron, Mauro Giacca, Katherine R Long
doi : 10.1093/brain/awac372
Brain, Volume 146, Issue 3, March 2023, Pages 1175–1185
Maternal viral infection and immune response are known to increase the risk of altered development of the foetal brain. Given the ongoing global pandemic of coronavirus disease 2019 (COVID-19), investigating the impact of SARS-CoV-2 on foetal brain health is of critical importance.
Hisakatsu Ito, Edita Navratilova, Barbora Vagnerova, Moe Watanabe, Carol Kopruszinski, Luiz H Moreira de Souza, Xu Yue, Daigo Ikegami, Aubin Moutal, Amol Patwardhan, Rajesh Khanna, Mitsuaki Yamazaki, Miguel Guerrero, Hugh Rosen, Ed Roberts, Volker Neugebauer, David W Dodick, Frank Porreca
doi : 10.1093/brain/awac153
Brain, Volume 146, Issue 3, March 2023, Pages 1186–1199
Increased vigilance in settings of potential threats or in states of vulnerability related to pain is important for survival. Pain disrupts sleep and conversely, sleep disruption enhances pain, but the underlying mechanisms remain unknown.
Rafael Romero-Garcia, Ayan S Mandal, Richard A I Bethlehem, Benedicto Crespo-Facorro, Michael G Hart, John Suckling
doi : 10.1093/brain/awac378
Brain, Volume 146, Issue 3, March 2023, Pages 1200–1211
Unravelling the complex events driving grade-specific spatial distribution of brain tumour occurrence requires rich datasets from both healthy individuals and patients.
Dan Benjamini, David S Priemer, Daniel P Perl, David L Brody, Peter J Basser
doi : 10.1093/brain/awac298
Brain, Volume 146, Issue 3, March 2023, Pages 1212–1226
There are currently no non-invasive imaging methods available for astrogliosis assessment or mapping in the central nervous system despite its essential role in the response to many disease states, such as infarcts, neurodegenerative conditions, traumatic brain injury and infection.
Sacha Weber, Giulia Coarelli, Anna Heinzmann, Marie-Lorraine Monin, Nicolas Richard, Marion Gerard, Alexandra Durr, Vincent Huin
doi : 10.1093/brain/awac466
Brain, Volume 146, Issue 3, March 2023, Pages e14–e16
Srestha Mazumder, Heather McCann, Susan D’Silva, Sarah Furlong, Claire E Shepherd, Jillian J Kril, Glenda M Halliday, Dominic B Rowe, Matthew C Kiernan, Rachel H Tan
doi : 10.1093/brain/awac467
Brain, Volume 146, Issue 3, March 2023, Pages e17–e19
doi : 10.1093/brain/awac469
Brain, Volume 146, Issue 3, March 2023, Page e20
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