Results 71 to 80 of about 44,410 (204)

Abnormal eye movements in three types of chorea

Arquivos de Neuro-Psiquiatria
Chorea is an abnormal movement characterized by a continuous flow of random muscle contractions. This phenomenon has several causes, such as infectious and degenerative processes. Chorea results from basal ganglia dysfunction.
Tiago Attoni, Rogério Beato, Serge Pinto, Francisco Cardoso   +3 more
doaj   +1 more source

Huntington\u27s Disease--A Review [PDF]

, 2016
Huntington’s disease is degenerative and effects both cognitive and motor functioning, beginning in the 20s and continuing a decline for about two decades until death.
Dunn, Christen
core   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Choreiform Wilson's disease and a distinctive 7-Tesla magnetic resonance imaging finding

Arquivos de Neuro-Psiquiatria
Chorea is a rare manifestation of Wilson's disease (WD), resulting from copper-induced dysfunction of the basal ganglia. We herein report the case of a 22-year-old woman with progressive dysarthria and generalized chorea, later confirmed as WD.
Ana Rosa Santana, Igor Vilela Brum, Izaely Ramos Prates, Júlio Melão Cordeiro, Rubens Gisbert Cury, Leandro Tavares Lucato, Egberto Reis Barbosa, Jacy Bezerra Parmera   +7 more
doaj   +1 more source

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]

, 2015
Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E, Coughlin, Curtis R, II, Creadon-Swindell, Geralyn, Friederich, Marisa W, Geiger, Elizabeth A, Minczuk, Michal, Powell, Christopher A, Scharer, Gunter H, Shaikh, Tamim H, Swanson, Michael A, Van Coster, Rudy, Van Hove, Johan LK, Vanlander, Arnaud, Yu, Hung-Chun   +13 more
core   +2 more sources

Epilepsia partialis continua as the presenting manifestation of Creutzfeldt–Jakob disease: A video‐polygraphic clinical vignette

Epileptic Disorders, EarlyView.
Roberta Cutellè, Angelo Pascarella, Ada Santoro, Vittoria Cianci, Anna Mammì, Giovanbattista Gaspare Tripodi, Caterina Prestandrea, Sara Gasparini, Edoardo Ferlazzo   +8 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Longitudinal Treatment Patterns of Chorea in North American Patients with Huntington’s Disease: Data from Enroll-HD

Neurology and Therapy
Introduction Chorea is the primary manifestation of Huntington’s disease. Different clinicians pursue varied approaches to chorea management, and real-world evidence describing them is needed.
Erin Furr Stimming, Daniel O. Claassen, Ginny P. Sen, Olga Klepitskaya, Michael Serbin, Hyunwoo Kim, Sean C. Hinton, Dietrich Haubenberger   +7 more
doaj   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Socio‐Occupational Functioning after Subthalamic Deep Brain Stimulation in Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Socio‐occupational functioning in patients with Parkinson's disease (PD) treated with subthalamic nucleus deep brain stimulation (STN‐DBS) is not fully captured by standard motor and quality‐of‐life scales. Objectives To characterize patient‐reported socio‐occupational functioning after STN‐DBS and explore associated clinical and ...
Gabriele Imbalzano, Elisa Montanaro, Martina Giacchero, Claudia Ledda, Alberto Romagnolo, Mario Giorgio Rizzone, Leonardo Lopiano, Maurizio Zibetti   +7 more
wiley   +1 more source