Results 41 to 50 of about 17,258 (175)

Clinical analysis on canal conversion of otolith in the treatment of geotropic nystagmus horizontal semicircular canal benign proxysmal positional vertigo by Barbecue maneuver

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To explore the correct diagnosis and treatment of canal conversion of otolith in the treatment of geotropic nystagmus horizontal semicircular canal benign paroxysmal positional vertigo (BPPV) by Barbecue maneuver. Methods and Results There were
Juan-juan GENG, Hui-e HUANG, Chi ZHANG, Yong CUI   +3 more
doaj  

Ocular Motor Abnormalities in Functional Neurological Disorder: A Video‐Oculography Study

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Functional neurological disorders (FND) can include various sensory, motor or cognitive symptoms. Eye movement recordings, measured through video‐oculography, could serve as biomarkers for characterizing these dysfunctions in FND.
Aude Sangare, Astrid de Liège, Bertrand Gaymard, Sophie Rivaud‐Péchoux, Cécilia Bonnet, Evžen Růžička, Jaromír May, Tereza Serranová, Francine Mesrati, Emmanuel Roze, Marie Vidailhet, Céline Louapre, Lionel Naccache, Béatrice Garcin   +13 more
wiley   +1 more source

Phenytoin-induced cerebellar atrophy: A case for reversibility of neurological decline

Radiology Case Reports
This case serves as a reminder of the infrequent, yet consequential occurrence of cerebellar degeneration linked to phenytoin usage. Whilst emphasizes the importance of monitoring patients on long-term phenytoin therapy, and it further suggests ...
Edwin Mogere, Davis Cheruiyot, Manakhe Nassiuma   +2 more
doaj   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Preliminary analysis of diagnosis and treatment for positional vertigo with invalid maneuver and negative MRI

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To analyze the types and characteristics of nystagmus in patients with positional vertigo who were ineffective by particle repositioning maneuver (PRM) and had negative findings in MRI, and try to explore drug treatment and prevention programme.
Fei LI, Hai-yan LI, Ying CHEN, Huan-huan GU, Xiao-wen ZHOU, Bo GAO, Chen-yong SHAHG, Jian-hua ZHUANG   +7 more
doaj  

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Neuromyelitis optica spectrum disorders initiated with dysphagia and upbeat nystagmus: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
DOI: 10.3969/j.issn.1672-6731.2019.02 ...
Jing WU, Guo-hong CUI, Wei CHEN, Xu-hong SUN, Yuan QIAO   +4 more
doaj  

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Lennox–Gastaut syndrome in a patient with biallelic TELO2 variants

Epileptic Disorders, EarlyView.
Melissa Odabassian, Kenneth A. Myers
wiley   +1 more source