Results 11 to 20 of about 1,817 (190)

Bruns' nystagmus revisited: A sign of stroke in patients with the acute vestibular syndrome [PDF]

, 2021
OBJECTIVE Gaze-evoked nystagmus (GEN) is a central sign in patients with the acute vestibular syndrome (AVS); however, discriminating between a pathological and a physiologic GEN is a challenge. Here we evaluate GEN in patients with AVS. METHODS
Athanasia Korda, Marco D. Caversaccio, Georgios Mantokoudis, Mantokoudis, Georgios, Wagner, Franca, Sauter, Thomas C, Franca Wagner, Caversaccio, Marco, Zee, David S, Thomas C. Sauter, Zamaro, Ewa, David S. Zee, Ewa Zamaro, Korda, Athanasia   +13 more
core   +1 more source

Oscillopsia and the influence of stress and motivation in fusion maldevelopment nystagmus syndrome [PDF]

, 2013
C1 - Journal Articles RefereedPURPOSE: We examined factors influencing perceptual stability in observers with fusion maldevelopment nystagmus syndrome (FMNS). In addition, we also investigated the effect of visual demand, task-related physiologic stress,
Anderson, AJ, Cham, KM, Abel, LA
core   +1 more source

Physiologic End Point Nystagmus

, 2022
This is a normal subject with end point nystagmus in lateral gaze. Features that favor physiologic (normal) end point nystagmus (EPN) rather than pathologic gaze-evoked nystagmus include: only present in far lateral gaze (at close to 100% of the normal ...
Daniel R. Gold, DO
core  

Chiari I Malformation: Review and Update of Current Treatment Options

Clinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Fixation instability in amblyopia: Oculomotor disease biomarkers predictive of treatment effectiveness [PDF]

, 2019
Amblyopic patients are known to have fixation instability, particularly of the amblyopic eye. The stability of the fixation is affected by the presence of nystagmus, the frequency and amplitude of fixational saccades and inter-saccadic drifts.
Otero-Millan J., Matteo Scaramuzzi, Fatema F. Ghasia, Shaikh A. G., Paolo Nucci, Aasef G. Shaikh, Scaramuzzi M., Murray J., Ghasia F. F., Nucci P., Jordan Murray, Jorge Otero-Millan   +11 more
core   +1 more source

Prevalence and Characteristics of Physiological Gaze-Evoked and Rebound Nystagmus: Implications for Testing Their Pathological Counterparts [PDF]

Frontiers in Neurology, 2020
Objective: Cerebellar diseases frequently affect the ocular motor neural velocity-to-position integrator by increasing its leakiness and thereby causing gaze-evoked nystagmus (GEN) and rebound nystagmus (RN). Minor leakiness is physiological and occasionally causes GEN in healthy humans.
Michelle Sari Ritter, Michelle Sari Ritter, Michelle Sari Ritter, Giovanni Bertolini, Giovanni Bertolini, Giovanni Bertolini, Giovanni Bertolini, Dominik Straumann, Dominik Straumann, Dominik Straumann, Dominik Straumann, Stefan Yu Bögli, Stefan Yu Bögli, Stefan Yu Bögli, Stefan Yu Bögli   +14 more
openaire   +4 more sources

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

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