Results 11 to 20 of about 108,719 (194)

Congenital nystagmus and negative electroretinography

Clinical Ophthalmology, 2011
Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about
Roussi M, Dalens H, Marcellier JJ, Bacin F   +3 more
doaj   +2 more sources

Gravity-Dependent Modulation of Downbeat Nystagmus: Insights From Velocity-Storage Dysfunction. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Park JH, Choi EH, Otero-Millan J, Zee DS, Choi JY, Kim JS.   +5 more
europepmc   +2 more sources

Perceived Vertical and Lateropulsion: Clinical Syndromes, Localization, and Prognosis [PDF]

, 2000
We present a clinical classification of central vestibular syndromes according to the three major planes of action of the vestibulo-ocular reflex: yaw, roll, and pitch.
Dieterich, Marianne, Brandt, Thomas
core   +1 more source

Nystagmus in a Young Male with Celiac Disease

International Journal of Hematology-Oncology and Stem Cell Research, 2012
A 25 y/o male was admitted with iron deficiency anemia and nystagmus. Anti-TTG (IgA) and Anti-endomyosial (IgA) were high and pathologic findings in duodenal biopsy were suggestive of celiac disease.
Nasim Valizadeh, Arash Mosarrezaii, Farzad Farrokhi, Shirin Lotfinejad   +3 more
doaj   +2 more sources

Prevalence of positional nystagmus during static positional testing in normal healthy population using video-nystagmography

, 2010
Positional nystagmus (PN) is a type of nystagmus that occurs as a result of the head or the head and body being moved from one position to another and then statically maintained in the critical position.
Svandelkova, Irena
core   +2 more sources

Benign paroxysmal positional vertigo recurrence and persistence Recorrência e persistência da vertigem posicional paroxística benigna

Brazilian Journal of Otorhinolaryngology, 2009
Benign paroxysmal positional vertigo (BPPV) is one of the most common vestibular disorders. AIM: To study the recurrence and persistence of BPPV in patients treated with canalith repositioning maneuvers (CRM) during the period of one year.
Ricardo S Dorigueto, Karen R Mazzetti, Yeda Pereira L Gabilan, Fernando Freitas Ganança   +3 more
doaj   +1 more source

Eye Movement Abnormalities in Multiple Sclerosis: Pathogenesis, Modeling, and Treatment

Frontiers in Neurology, 2018
Multiple sclerosis (MS) commonly causes eye movement abnormalities that may have a significant impact on patients’ disability. Inflammatory demyelinating lesions, especially occurring in the posterior fossa, result in a wide range of disorders, spanning ...
Alessandro Serra, Clara G. Chisari, Manuela Matta   +2 more
doaj   +1 more source

Upright BPPV Protocol: Feasibility of a New Diagnostic Paradigm for Lateral Semicircular Canal Benign Paroxysmal Positional Vertigo Compared to Standard Diagnostic Maneuvers

Frontiers in Neurology, 2020
Background: The diagnosis of benign paroxysmal positional vertigo (BPPV) involving the lateral semicircular canal (LSC) is traditionally entrusted to the supine head roll test, also known as supine head yaw test (SHYT), which usually allows ...
Salvatore Martellucci, Pasquale Malara, Andrea Castellucci, Rudi Pecci, Beatrice Giannoni, Vincenzo Marcelli, Alfonso Scarpa, Ettore Cassandro, Silvia Quaglieri, Marco Lucio Manfrin, Elisabetta Rebecchi, Enrico Armato, Francesco Comacchio, Marta Mion, Giuseppe Attanasio, Massimo Ralli, Massimo Ralli, Antonio Greco, Antonio Greco, Marco de Vincentiis, Marco de Vincentiis, Cecilia Botti, Cecilia Botti, Luisa Savoldi, Luigi Califano, Angelo Ghidini, Giulio Pagliuca, Veronica Clemenzi, Veronica Clemenzi, Andrea Stolfa, Andrea Stolfa, Andrea Gallo, Andrea Gallo, Giacinto Asprella Libonati   +33 more
doaj   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. [PDF]

, 2006
Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus.
Constantinescu, CS, Eryl O Roberts, Musarat Awan, Veal, CD, Lisgo, Steven, McLean, RJ, Veal, Colin D, Roberts, Eryl O, Oliver C Backhouse, Reinwcke, RD, Reinecke, RD, Surendran, Mylvaganam, Langmann, Andrea, Droutsas, K, Nagini Sarvananthan, Wooster, Richard, Uma Mallya, Jon Teague, Wooster, R, Hunter, DG, Martina Koch, Sarah Edkins, Parker, A, Parker, Adrian, Ioannis Asproudis, Langmann, A, Sunila Jain, Jain, S, Edkins, S, Richard Wooster, Edkins, Sarah, Degg, C, Woodruff, Geoffrey, Hertle, Richard W, Adrian Parker, Zubcov, Alina A, Sarvananthan, Nagini, Brodsky, Michael C, Stevens, Claire, P Andrew Futreal, Droutsas, Konstantinos, Teague, J, Reinecke, Robert D, Tarpey, Patrick, Michael R Stratton, Mylvaganam Surendran, Tarpey, P, Koch, M, Alina A Zubcov, Teague, Jon, Claire Stevens, McLean, Rebecca J, Jain, Sunila, Constantinescu, Cris S, Pieh, Christina, Raymond, FL, Read, RJ, F Lucy Raymond, Awan, M, Andrea Langmann, Lindner, Susanne, Chris J Talbot, Michael C Brodsky, Backhouse, OC, Zubcov, AA, Andrew Bastawrous, O'Meara, Sarah, Trembath, Richard C, Mallya, U, Pieh, C, Geoffrey Woodruff, Laura Baumber, Chris Degg, Gale, Richard P, Stratton, Michael R, Baumber, Laura, Rajiv D Machado, Backhouse, Oliver C, Asproudis, Ioannis, Lisgo, S, Thomas, Shery, Colin D Veal, Rebecca J McLean, Cris S Constantinescu, Randy J Read, Roberts, EO, Futreal, PA, Stratton, MR, Baumber, L, Konstantinos Droutsas, Asproudis, I, Machado, Rajiv D, Trembath, RC, Koch, Martina, Susanne Lindner, Mallya, Uma, Machado, RD, Gale, RP, Hertle, RW, Lindner, S, Gottlob, I, Read, Randy J, Sarah O'Meara, Bastawrous, Andrew, Talbot, CJ, Brodsky, MC, Degg, Chris, Irene Gottlob, Robert D Reinecke, Futreal, P Andrew, Surendran, M, Patrick Tarpey, Awan, Musarat, Richard C Trembath, Gottlob, Irene, David G Hunter, Talbot, Chris J, O'Meara, S, Shery Thomas, Raymond, F Lucy, Richard W Hertle, Steven Lisgo, Sarvananthan, N, Woodruff, G, Hunter, David G, Stevens, C, Thomas, S, Richard P Gale, Christina Pieh, Raymond, F. Lucy, Pieh-Beisse, Christina   +130 more
core   +1 more source