Results 1 to 10 of about 17,947 (227)

Nystagmus – eye joke or pathological sign (case of voluntary nystagmus) [PDF]

Child Neurology, 2019
Oczopląs umyślny (ang. voluntary nystagmus) to wahadłowe, szybkie, poziome oscylacje gałek ocznych, bez fazy wolnej, inicjowane i utrzymywane przez pacjenta świadomie. Czas trwania tych oscylacji jest ograniczony zmęczeniem pacjenta.
Marta Zawadzka, Jakub Szymarek, Agnieszka Matheisel, Anna Lemska, Sandra Modrzejewska, Ewelina Trybała, Maria Mazurkiewicz-Bełdzińska   +6 more
openaire   +2 more sources

Persistent geotropic nystagmus : a different kind of cupula pathology

, 2014
In patients with positional vertigo a persistent positional direction-changing nystagmus (PDCN) of apogeotropic direction (a-PDCN) in the supine yaw plane has been described earlier 1-5. It has been suggested that the cupula in the lateral semicircular canal has a higher specific weight than the surrounding endolymph making the cupula sensitive to ...
Tatjana Tomanovic (18655078)
openaire   +2 more sources

Clinical pathology and diagnostics of nystagmus

Russian Pediatric Ophthalmology, 2021
Optical nystagmus is an involuntary oscillatory movement. Nystagmus can occur as an isolated nosology and lead to decreased visual functions in combination with other pathologies. A decreased visual function, including visual acuity, is observed in many patients with optic nystagmus. Patients with optical nystagmus were noted by ophthalmologists with a
openaire   +1 more source

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

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   +5 more sources

The Developmental Eye Movement Test Does Not Detect Oculomotor Problems: Evidence from Children with Nystagmus

, 2022
The Developmental Eye Movement (DEM) test, a test purported to assess oculomotor skills, does not detect eye movement disorder in nystagmus syndromes. The test should not be used for the clinical evaluation of oculomotor disorders.
Tanke, Nouk, Goossens, Jeroen, Tanke, N., Barsingerhorn, A.D., Barsingerhorn, Annemiek D., Goossens, J., Boonstra, F. Nienke, Boonstra, F.N.   +7 more
core   +1 more source

Congenital nystagmus and negative electroretinography

, 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
null Roussi, Dalens H, Bacin F, H. Dalens, F. Bacin, Roussi M, Marcellier JJ   +6 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source