Results 31 to 40 of about 1,070 (114)
Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)
World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 1, Page 1-24, February 2026.ABSTRACT
Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association; Society of Audiology and Vestibular Medicine, China International Exchange and Promotive Association for Medical and Health Care, Hong‐Yang Wang, Guo‐Hui Nie, Xiao‐Nan Wu, Ding‐Jun Zha, Tao Shi, Hai‐Bo Shi, Yong Feng, Wen‐Yan Li, Hai‐Hong Liu, Qing Zhang, Xiao‐Wei Chen, Xia Gao, Yong‐Xin Li, Lu Ma, Jin Li, Dan‐Yang Li, Xiao‐Long Zhang, Meng‐Tao Song, Xin Zhou, Lan Lan, Lan Yu, Meng‐Qian Zhang, Wei Shi, Fen Xiong, Lin‐Yi Xie, Guo‐Hui Chen, Kai‐Li Wu, Xiao‐Qian Ren, Qiu‐Jing Zhang, Ming‐Hui Zhao, Zi‐Yi Chen, Fei Ji, Jiao Zhang, Jing Guan, Da‐Yong Wang, Ren‐Jie Chai, Xin Jin, Hua‐Wei Li, Shi‐Ming Yang, Shan‐Kai Yin, Qiu‐Ju Wang +43 morewiley +1 more sourceBuried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases
Annals of Neurology, Volume 98, Issue 6, Page 1178-1195, December 2025.[Color figure can be viewed at www.annalsofneurology.org]
Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and ...Nico J. Diederich, Martin Brüne, John S. Allen, Nicole Bender, Emiliano Bruner, Jean‐Pierre Changeux, Corrado Cali, Olga Dolgova, Anne Grünewald, Geneviève Konopka, Peng Jin, Roger Lemon, Gilberto Levy, Pierre Magistretti, Markus J. Rantala, Kathleen S. Rockland, Roger Sullivan, Annie Swanepoel, Toshiki Uchihara, Katrin Amunts, Christopher G. Goetz +20 morewiley +1 more sourceCerebellar ataxia with peripheral polyneuropathy and bilateral vestibular areflexia CANVAS - a case report [PDF]
, 2018 Cerebelarna ataksija s perifernom polineuropatijom i obostranom vestibularnom arefleksijom, CANVAS, sporo je progresivna multisenzorna degeneracija koja uključuje oštećenje cerebeluma, perifernog vestibularnog i senzornog sustava. U bolesnika s CANVAS-om oštećena su tri od četiri sustava na kojima počiva održavanje ravnoteže, jedino vid ostaje pošteđen.Lovrić-Kojundžić, Sanja, Pivalica, Dinko, Poljičanin, Ana, Vlak, Tonko, Košta, Vana +4 moreopenaire Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1)
Archivos de BronconeumologíaA common complaint in patients is chronic cough (CC), which may be refractory (RCC) or unexplained (UCC). Recent studies point, as a possible cause of CC, to the hereditary cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS), with an estimated carrier prevalence of 1 in 20000.In patients with CC, determine the ...Esther, Palones, Vicente, Plaza, Lidia, Gonzalez-Quereda, Alba, Segarra-Casas, Luis, Querol, Federico, Bertoletti, María José, Rodriguez, Pía, Gallano, Astrid, Crespo-Lessmann +8 moreopenaire +2 more sourcesHuman Cytomegalovirus Associated Neuropathies: A Comprehensive Review From Pathophysiology to Clinical and Therapeutic Considerations
Journal of the Peripheral Nervous System, Volume 30, Issue 4, December 2025.ABSTRACT
Human cytomegalovirus (HCMV) is a neurotropic, double‐stranded DNA virus from the Herpesviridae family. It has a large genome, infects the majority of populations, and typically causes asymptomatic infections in healthy individuals. After the initial infection with established lifelong latency, HCMV can reactivate and cause disorders including Naomi Behanan, Sarab Mohamed, Rhona Chen, Gloria Mak, Jian‐Qiang Lu +4 morewiley +1 more sourceDiagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)
European Journal of Neurology, Volume 32, Issue 9, September 2025.Between 2017 and 2022, 13.5% of the 42,256 FILNEMUS patients (n = 5696) still lacked a confirmed diagnosis. Socio‐economic status and postcode are off the hook, but crossing the 50‐year mark sharply lengthens the gap between first symptoms and expert evaluation.Rémy Dumas, Anne‐Sophie Jannot, Nabila Elarouci, Emmanuelle Salort‐Campana, Lucie Pisella, Céline Tard, Sabrina Sacconi, Françoise Bouhour, Elisabeth Sarrazin, Marco Spinazzi, Pascal Laforet, Yann Pereon, Aleksandra Nadaj‐Pakleza, Andoni Echaniz‐Laguna, Ariane Choumert, Laurent Magy, Léonard Feasson, Florence Esselin, Claude Cances, Caroline Espile, Isabelle Desguerre, Cécile Rouzier, Pascal Cintas, Tanya Stojkovic, Guilhem Solé, Shahram Attarian, the FILNEMUS Study Group, Carole Vuillerot, Jean Christophe Antoine, Catherine Sarret, Frédéric Taithe, Klaus Dieterich, Martial Mallaret, Arnaud Isapof, Brigitte Chabrol, Sylvie Nguyen The Tich, Maud Michaud, François‐Constant Boyer, Nathalie Bach, Agnès Jacquin‐Piques, Ulrike Walther Louvier, Jean‐Baptiste Noury, Juliette Ropars, Sylvain Brochard, Rémi Bellance, Olivier Flabeau, Mélanie Fradin, David Adams, Véronique Paquis, Cécilia Marelli, Jean‐Paul Bonnefont, Dominique Bonneau, Didier Lacombe, Emmanuel Gonzales, Vincent Laugel, Marie‐Thérèse Abi Warde, Emilien Délmont, Julien Durigneux, Julien Cassereau, Anabelle Chaussenot, Claire Lefeuvre +60 morewiley +1 more sourceValidation of Monocular Pupillometry in Healthy Controls and Patients With Autonomic Dysfunction: Pupillary Biomarkers for Autonomic Failure
European Journal of Neurology, Volume 32, Issue 8, August 2025.This prospective study introduces normative parasympathetic and sympathetic ocular data of 40 healthy controls and validates the monocular handheld pupillometer PLR‐4000 (NeurOptics) in 100 patients with autonomic dysfunction. We present detailed protocols including the use of pharmacologic stimuli as an easily accessible, noninvasive tool for ...Laura Sander, Grace Oommen, Conor Brophy, Silver Bohus‐Roper, Giacomo Chiaro, Fion Bremner, Valeria Iodice +6 morewiley +1 more sourceNeuropathy in GAA‐FGF14 Late‐Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics
European Journal of Neurology, Volume 32, Issue 7, July 2025.ABSTRACT Background
This study aimed to investigate the prevalence, characteristics, and determinants of peripheral neuropathy in a large cohort of patients affected by spinocerebellar ataxia type 27B (SCA27B), a late‐onset cerebellar ataxia caused by heterozygous GAA repeat expansions in the first intron of the FGF14 gene.Julian Theuriet, Lukas Paulet, Blandine Acket, Fabienne Ory‐Magne, Hocine Belbachir, Jean‐Baptiste Chanson, Françoise Bouhour, Chloé Laurencin, Caroline Froment Tilikete, Pierre Lardeux, Guillemette Clement, Armand Hocquel, Mathilde Renaud, Céline Bonnet, Cecilia Marelli, Sacha Weber, Camille Comet, Jean‐Philippe Azulay, Frédérique Fluchère, Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, Christophe Verny, Virginie Guillet‐Pichon, Lucie Guyant‐Marechal, Clément Desjardins, Audrey Riou, Bertrand Degos, Sandra Mercier, Cyril Goizet, Manon Degoutin, Chloé Angelini, Brice Laurens, Adrian Degardin, Nicolas Carrière, Gwenaël Le Guyader, Vincent Schneider, Gwendoline Dupont, Quentin Thomas, Maxime Merindol, Elsa Besse‐Pinot, Aurélie Méneret, Emmanuel Roze, Alexandra Durr, Stéphane Thobois, Mathieu Anheim, Thomas Wirth, Antoine Pegat +47 morewiley +1 more sourceFunctional impact of bilateral vestibular loss and the unexplained complaint of oscillopsia
Frontiers in NeurologyIntroductionThe vestibulo-ocular reflex (VOR) stabilizes vision during head movements. VOR disorders lead to symptoms such as imbalance, dizziness, and oscillopsia. Despite similar VOR dysfunction, patients display diverse complaints. This study analyses Dario Geisinger, Dario Geisinger, Zohar Elyoseph, Zohar Elyoseph, Zohar Elyoseph, Roy Zaltzman, Roy Zaltzman, Matti Mintz, Matti Mintz, Carlos R. Gordon, Carlos R. Gordon, Carlos R. Gordon +11 moredoaj +1 more source