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BMJ Journals

Online First

June 26, 2024

Neurodegeneration
Visuospatial dysfunction predicts dementia-first phenoconversion in isolated REM sleep behaviour disorder

Jing Wang, Bei Huang, Li Zhou, Shi Tang, Hongliang Feng, Joey W Y Chan, Steven W H Chau, Jihui Zhang, Shirley X Li, Vincent Mok, Yun Kwok Wing, Yaping Liu

doi: 10.1136/jnnp-2024-333865
Neurodegeneration
Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment

Elisa De La Cruz, Florence Esselin, Anne Polge, Kévin Mouzat, Claire Guissart

doi: 10.1136/jnnp-2024-333939

June 24, 2024

Neuropsychiatry
Neurocognitive and psychiatric outcomes associated with postacute COVID-19 infection without severe medical complication: a meta-analysis

Sarah A B Knapp, David S Austin, Stephen L Aita, Joshua E Caron, Tyler Owen, Nicholas C Borgogna, Victor A Del Bene, Robert M Roth, William P Milberg, Benjamin D Hill

doi: 10.1136/jnnp-2024-333950

June 21, 2024

Cerebrovascular disease
Association between heavy alcohol consumption and cryptogenic ischaemic stroke in young adults: a case–control study

Nicolas Martinez-Majander, Shakar Kutal, Pauli Ylikotila, Nilufer Yesilot, Lauri Tulkki, Marialuisa Zedde, Tomi Sarkanen, Ulla Junttola, Annika Nordanstig, Annette Fromm, Kristina Ryliskiene, Radim Licenik, Phillip Ferdinand, Dalius Jatuzis, Liisa Kõrv, Janika Kõrv, Alessandro Pezzini, Suvi Tuohinen, Juha Sinisalo, Mika Lehto, Eva Gerdts, Essi Ryödi, Jaana Autere, Marja Hedman, Ana Catarina Fonseca, Ulrike Waje-Andreassen, Bettina von Sarnowski, Petra Redfors, Tiina Sairanen, Turgut Tatlisumak, Risto O Roine, Juha Huhtakangas, Heikki Numminen, Pekka Jäkälä, Jukka Putaala The SECRETO Study Group

doi: 10.1136/jnnp-2024-333759

June 06, 2024

Neuro-inflammation
Clinical, prognostic and pathophysiological implications of MOG-IgG detection in the CSF: the importance of intrathecal MOG-IgG synthesis

Giacomo Greco, Mario Risi, Stefano Masciocchi, Pietro Businaro, Eleonora Rigoni, Elisabetta Zardini, Silvia Scaranzin, Chiara Morandi, Luca Diamanti, Thomas Foiadelli, Maria Pia Giannoccaro, Luana Morelli, Rocco Liguori, Paolo Barone, Alessandra Tozzo, Alice Passarini, Stefano Gelibter, Francesco Patti, Paola Banfi, Anna Maria Simone, Alvino Bisecco, Martino Ruggieri, Davide Maimone, Giorgia Bruno, Sabrina Siliquini, Stefania Bova, Massimiliano Di Filippo, Roberta Lanzillo, Antonio Gallo, Elena Colombo, Diego Franciotta, Matteo Gastaldi on behalf of the Neuroimmunology Platform (PNI) study group

doi: 10.1136/jnnp-2024-333554
Multiple sclerosis
CSF sphingolipids are correlated with neuroinflammatory cytokines and differentiate neuromyelitis optica spectrum disorder from multiple sclerosis

Lisa Shi, Laura Ghezzi, Chiara Fenoglio, Anna Margherita Pietroboni, Daniela Galimberti, Francesca Pace, Todd A Hardy, Laura Piccio, Anthony S Don

doi: 10.1136/jnnp-2024-333774

June 05, 2024

Neuromuscular
Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study

Naoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, Masanori P Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki

doi: 10.1136/jnnp-2024-333853
Neuromuscular
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy

Alessandro Bertini, Luca Gentile, Tiziana Cavallaro, Stefano Tozza, Paola Saveri, Massimo Russo, Sara Massucco, Yuri Matteo Falzone, Emilia Bellone, Federica Taioli, Alessandro Geroldi, Giuseppe Occhipinti, Moreno Ferrarini, Eleonora Cavalca, Luca Crivellari, Paola Mandich, Francesca Balistreri, Stefania Magri, Franco Taroni, Stefano Carlo Previtali, Angelo Schenone, Marina Grandis, Fiore Manganelli, Gian Maria Fabrizi, Anna Mazzeo, Davide Pareyson, Chiara Pisciotta

doi: 10.1136/jnnp-2024-333842
Multiple sclerosis
Ethnicity and deprivation negatively impact the access to disease-modifying therapy for relapsing-remitting multiple sclerosis: a retrospective, single-centre study

Joyutpal Das, Gagana Mallawaarachchi, Jack Grimshaw, Thomas Jackson, Paul Talbot, Nazar Sharaf, Thaleia Kalatha, Lindsay Lord, Adrian Pace, Tatiana Mihalova, Calvin Heal, David Rog

doi: 10.1136/jnnp-2024-333338

June 02, 2024

Neurosurgery
Dynamics of synaptic damage in severe traumatic brain injury revealed by cerebrospinal fluid SNAP-25 and VILIP-1

Florian olde Heuvel, Zhenghui Li, Daniel Riedel, Steffen Halbgebauer, Patrick Oeckl, Benjamin Mayer, Nina Gotzman, Sandy Shultz, Bridgette Semple, Hayrettin Tumani, Albert C Ludolph, Tobias Maria Boeckers, Cristina Morganti-Kossmann, Markus Otto, Francesco Roselli

doi: 10.1136/jnnp-2024-333413

May 30, 2024

Neurogenetics
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese

Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, Shinichi Shirai, Masaaki Matsushima, Masaki Okubo, Taishi Wada, Misako Kunii, Ken Johkura, Ryosuke Miyamoto, Yusuke Osaki, Takabumi Miyama, Mai Satoh, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Kazuharu Misawa, Kohei Hamanaka, Haruka Hamanoue, Takeshi Mizuguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe, Naomichi Matsumoto

doi: 10.1136/jnnp-2024-333541
Movement disorders
Data-driven sequence of cognitive decline in people with Parkinson’s disease

Andrew John Petkus, Erin Donahue, Michael W Jakowec, Ece Bayram, John Darrell Van Horn, Irene Litvan, Giselle M Petzinger, Dawn M Schiehser

doi: 10.1136/jnnp-2023-333270

May 24, 2024

Neurogenetics
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards

Jevin M Parmar, Nigel G Laing, Marina L Kennerson, Gianina Ravenscroft

doi: 10.1136/jnnp-2024-333436

May 23, 2024

Multiple sclerosis
Algorithmic approach to finding people with multiple sclerosis using routine healthcare data in Wales

Richard Nicholas, Emma Clare Tallantyre, James Witts, Ruth Ann Marrie, Elaine M Craig, Sarah Knowles, Owen Rhys Pearson, Katherine Harding, Karim Kreft, J Hawken, Gillian Ingram, Bethan Morgan, Rodden M Middleton, Neil Robertson, UKMS Register Research Group

doi: 10.1136/jnnp-2024-333532

May 22, 2024

Neuro-inflammation
Immunosuppressive therapy in elderly patients with neuromyelitis optica spectrum disorder: a retrospective multicentre study

Ki Hoon Kim, Yeon Hak Chung, Ju-Hong Min, Hee Jo Han, Seung Woo Kim, Ha Young Shin, Young Nam Kwon, Sung-Min Kim, Young-Min Lim, Hyunjin Kim, Eun-Jae Lee, Seong Ho Jeong, Jae-Won Hyun, Su-Hyun Kim, Ho Jin Kim

doi: 10.1136/jnnp-2024-333644

May 17, 2024

Movement disorders
Nigrostriatal blood-brain barrier opening in Parkinson’s disease

Carmen Gasca-Salas, José A Pineda-Pardo, Marta Del Álamo, Tamara Jiménez, Clara Trompeta, Gabriella Toltsis, Lina Garcia-Cañamaque, Beatriz Fernández-Rodríguez, Michele Matarazzo, Isabel Plaza de las Heras, Elena Natera-Villalba, Raúl Martínez-Fernández, Alicia Duque, Santiago Ruiz de Aguiar, Javier Blesa, Itay Rachmilevich, José A Obeso

doi: 10.1136/jnnp-2023-332967

May 16, 2024

Neuro-inflammation
Oral corticosteroid dosage and taper duration at onset in myelin oligodendrocyte glycoprotein antibody-associated disease influences time to first relapse

Benjamin P Trewin, Russell C Dale, Jessica Qiu, Melissa Chu, Niroshan Jeyakumar, Fionna Dela Cruz, Jane Andersen, Pakeeran Siriratnam, Kit Kwan M Ma, Todd A Hardy, Anneke van der Walt, Jeanette Lechner-Scott, Helmut Butzkueven, Simon A Broadley, Michael H Barnett, Stephen W Reddel, Fabienne Brilot, Tomas Kalincik, Sudarshini Ramanathan On behalf of the Australasian MOGAD Study Group

doi: 10.1136/jnnp-2024-333463
Multiple sclerosis
Cognitive rehabilitation effects on grey matter volume and Go-NoGo activity in progressive multiple sclerosis: results from the CogEx trial

Maria A Rocca, Paola Valsasina, Francesco Romanò, Nicolò Tedone, Maria Pia Amato, Giampaolo Brichetto, Vincenzo Daniele Boccia, Jeremy Chataway, Nancy D Chiaravalloti, Gary Cutter, Ulrik Dalgas, John DeLuca, Rachel A Farrell, Peter Feys, Jennifer Freeman, Matilde Inglese, Cecilia Meza, Robert W Motl, Amber Salter, Brian M Sandroff, Anthony Feinstein, Massimo Filippi The Cogex Research Team

doi: 10.1136/jnnp-2024-333460

May 14, 2024

Editorial commentary
Highlighting the past and future of inherited peripheral neuropathies
Free

Stephan Zuchner

doi: 10.1136/jnnp-2024-333841
Multiple sclerosis
Impact of previous treatment history and B-cell depletion treatment duration on infection risk in relapsing-remitting multiple sclerosis: a nationwide cohort study

Suvi Virtanen, Fredrik Piehl, Thomas Frisell

doi: 10.1136/jnnp-2023-333206
Multiple sclerosis
Trajectories of self-reported fatigue following initiation of multiple sclerosis disease-modifying therapy

Simon Englund, Thomas Frisell, Ying Qu, Kavita Gandhi, Annika Hultén, Marie Kierkegaard, Fredrik Piehl, Elisa Longinetti

doi: 10.1136/jnnp-2024-333595

May 09, 2024

Movement disorders
Phase 1 study of safety and preliminary efficacy of intranasal transplantation of human neural stem cells (ANGE-S003) in Parkinson’s disease

Shenzhong Jiang, Han Wang, Chengxian Yang, Feng Feng, Dan Xu, Mengyu Zhang, Manqing Xie, Ruixue Cui, Zhaohui Zhu, Chenhao Jia, Linwen Liu, Lin Wang, Xunzhe Yang, Yingmai Yang, Honglin Hao, Zhaoxi Liu, Zhihong Wu, Ling Leng, Xiaoxin Li, Xicai Sun, Xiongfei Zhao, Jinfang Xu, Yi Zhang, Xinhua Wan, Xinjie Bao, Renzhi Wang

doi: 10.1136/jnnp-2023-332921
Movement disorders
Neurophysiological features of STN LFP underlying sleep fragmentation in Parkinson’s disease

Guokun Zhang, Huiling Yu, Yue Chen, Chen Gong, Hongwei Hao, Yi Guo, Shujun Xu, Yuhuan Zhang, Xuemei Yuan, Guoping Yin, Jian-guo Zhang, Huiling Tan, Luming Li

doi: 10.1136/jnnp-2023-331979

May 06, 2024

Cognition
A phase I trial of accelerated intermittent theta burst rTMS for amnestic MCI

Stephanie Aghamoosa, James Lopez, Katrina Rbeiz, Holly H Fleischmann, Olivia Horn, Katrina Madden, Kevin A Caulfield, Michael U Antonucci, Gonzalo Revuelta, Lisa M McTeague, Andreana Benitez

doi: 10.1136/jnnp-2023-332680

April 25, 2024

Neuro-inflammation
Identification of DAGLA as an autoantibody target in cerebellar ataxia

Ramona Miske, Madeleine Scharf, Kathrin Borowski, Ina Specht, Merle Corty, Monika-Johanna Loritz, Frederik Rombach, Guy Laureys, Nadine Rochow, Christiane Radzimski, Linda Schnitter, Dominica Ratuszny, Thomas Skripuletz, Mike P Wattjes, Stefanie Hahn, Yvonne Denno, Khadija Guerti, Matthijs Oyaert, Farid Benkhadra, Corinna Ines Bien, Sophie Nitsch, Klaus-Peter Wandinger, Vincent van Pesch, Christian Probst, Bianca Teegen, Lars Komorowski, Kurt-Wolfram Sühs

doi: 10.1136/jnnp-2024-333458
Neurodegeneration
Genetics impact risk of Alzheimer’s disease through mechanisms modulating structural brain morphology in late life

Roxanna Korologou-Linden, Bing Xu, Elizabeth Coulthard, Esther Walton, Alfie Wearn, Gibran Hemani, Tonya White, Charlotte Cecil, Tamsin Sharp, Henning Tiemeier, Tobias Banaschewski, Arun Bokde, Sylvane Desrivières, Herta Flor, Antoine Grigis, Hugh Garavan, Penny Gowland, Andreas Heinz, Rüdiger Brühl, Jean-Luc Martinot, Marie-Laure Paillère Martinot, Eric Artiges, Frauke Nees, Dimitri Papadopoulos Orfanos, Tomáš Paus, Luise Poustka, Sabina Millenet, Juliane H Fröhner, Michael Smolka, Henrik Walter, Jeanne Winterer, Robert Whelan, Gunter Schumann, Laura D Howe, Yoav Ben-Shlomo, Neil M Davies, Emma Louise Anderson

doi: 10.1136/jnnp-2023-332969

April 24, 2024

Neurodegeneration
Clinical value of plasma ALZpath pTau217 immunoassay for assessing mild cognitive impairment

Sylvain Lehmann, Susanna Schraen-Maschke, Jean-Sébastien Vidal, Constance Delaby, Luc Buee, Frédéric Blanc, Claire Paquet, Bernadette Allinquant, Stéphanie Bombois, Audrey Gabelle, Olivier Hanon on behalf of the BALTAZAR study group

doi: 10.1136/jnnp-2024-333467

April 03, 2024

Multiple sclerosis
Routine CSF parameters as predictors of disease course in multiple sclerosis: an MSBase cohort study

Cathérine Dekeyser, Matthias Hautekeete, Melissa Cambron, Vincent Van Pesch, Francesco Patti, Jens Kuhle, Samia Khoury, Jeanette Lechner Scott, Oliver Gerlach, Alessandra Lugaresi, Davide Maimone, Andrea Surcinelli, Pierre Grammond, Tomas Kalincik, Mario Habek, Barbara Willekens, Richard Macdonell, Patrice Lalive, Tunde Csepany, Helmut Butzkueven, Cavit Boz, Valentina Tomassini, Matteo Foschi, José Luis Sánchez-Menoyo, Ayse Altintas, Saloua Mrabet, Gerardo Iuliano, Maria Jose Sa, Raed Alroughani, Rana Karabudak, Eduardo Aguera-Morales, Orla Gray, Koen de Gans, Anneke van der Walt, Pamela A McCombe, Norma Deri, Justin Garber, Abdullah Al-Asmi, Olga Skibina, Pierre Duquette, Elisabetta Cartechini, Daniele Spitaleri, Riadh Gouider, Aysun Soysal, Liesbeth Van Hijfte, Mark Slee, Maria Pia Amato, Katherine Buzzard, Guy Laureys

doi: 10.1136/jnnp-2023-333307

February 28, 2024

Movement disorders
Exercise as medicine in Parkinson’s disease

Martin Langeskov-Christensen, Erika Franzén, Lars Grøndahl Hvid, Ulrik Dalgas

doi: 10.1136/jnnp-2023-332974

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