Results 11 to 20 of about 17,258 (175)

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort. [PDF]

Eur J Neurol
In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Alm V, Säll L, Samuelsson K, Press R, Arnardottir S, Lindstrand A, Niemelä V, Terinte L, Nordin F, Svenningsson P, Nilsson D, Verrecchia L, Paucar M.   +12 more
europepmc   +2 more sources

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

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

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   +3 more sources

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

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

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

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

Real‐World Investigation of Satralizumab in Patients With Neuromyelitis Optica Spectrum Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Satralizumab, a monoclonal antibody targeting the interleukin‐6 receptor, has demonstrated efficacy in clinical trials for neuromyelitis optica spectrum disorder (NMOSD). However, its real‐world effectiveness and safety compared to conventional immunosuppressive therapies remain uncertain.
Li‐Tsung Lin, Hui‐An Lin, Sheng‐Feng Lin   +2 more
wiley   +1 more source

Análise da influência do nistagmo espontâneo e pré-calórico na vectoeletronistagmografia Analysis of spontaneous and per caloric nistagmus and its influence in vectonystagmography

Revista CEFAC, 2009
OBJETIVO: verificar a ocorrência do nistagmo espontâneo / pré-calórico, sua direção, cálculo da velocidade angular média e real da componente lenta, sua influência quantitativa e qualitativa nas pro-vas calórica e rotatória em pacientes com sintomas ...
Gisiane Munaro, Pricila Sleifer, Fleming Salvador Pedroso   +2 more
doaj   +1 more source