Results 131 to 140 of about 40,902 (288)

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

Pulse Pressure, White Matter Hyperintensities, and Cognition: Mediating Effects Across the Adult Lifespan

Annals of Clinical and Translational Neurology
Objectives To investigate whether pulse pressure or mean arterial pressure mediates the relationship between age and white matter hyperintensity load and to examine the mediating effect of white matter hyperintensities on cognition.
Jade Hannan, Sarah Newman‐Norlund, Natalie Busby, Sarah C. Wilson, Roger Newman‐Norlund, Chris Rorden, Julius Fridriksson, Leonardo Bonilha, Nicholas Riccardi   +8 more
doaj   +1 more source

Orofacial Drinking Tremor: A Case Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Task‐specific orofacial tremor is a rare condition in which rhythmic oscillations of orofacial muscles occur during specific actions. Drinking tremor represents a recurrent pattern in isolated reports, although its phenomenology and underlying mechanisms remain incompletely defined.
Daniele Birreci, Luca Angelini, Simone Aloisio, Anna S. Grandolfo, Sara Cirinei, Adriana Martini, Martina De Riggi, Matteo Bologna   +7 more
wiley   +1 more source

Adaptive metabolic changes in CADASIL white matter [PDF]

, 2018
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important genetic cause of stroke, but pathogenic mechanisms and functional alterations remain poorly characterized.
Akhvlediani, Tamar, Boesiger, Peter, Henning, Anke, Jung, Hans, Sándor, Peter   +4 more
core  

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

White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification

Movement Disorders, EarlyView.
Abstract Background Primary brain calcification (PBC) is a genetic disease featuring movement disorders, cognitive impairment, and/or psychiatric symptoms. Computed tomography (CT) scan identifies brain calcification but poorly correlates with patients' clinical phenotype; the role of magnetic resonance imaging (MRI) is yet undefined.
Giovanni Librizzi, Giulia Bonato, Matilde Corazza, Irene Guerra, Francesca Pistonesi, Cinzia Bertolin, Leonardo Salviati, Angelo Antonini, Renzo Manara, Miryam Carecchio   +9 more
wiley   +1 more source

Predictors of Complete Oral Intake in Patients With Stroke After Tracheostomy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Tracheostomy procedures inhibit swallowing, although details of subsequent recovery of oral intake remain unknown. This retrospective cohort study aimed to investigate factors influencing dysphagia improvement in patients with subacute stroke ...
Keita Tsuzuki, Naoki Mori, Yuki Hayami, Osamu Oshima, Hidekazu Sugawara, Tetsuya Tsuji   +5 more
doaj   +1 more source

Diagnostic Value of Glycocalyx Shedding in Blood for Differentiating between Parkinson's Disease and Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Blood–brain barrier disruption is increasingly recognized in synucleinopathies, but the role of the endothelial glycocalyx (GLX) in Parkinson's disease (PD) and multiple system atrophy (MSA) remains unclear. Objectives The aim was to determine whether plasma GLX markers differ between PD, MSA, and healthy controls (HC), relate to ...
Jonas Folke, Brian DellaValle, Mathias Lindh Jørgensen, Phillip Bredahl Mogensen, Casper Hempel, Jørgen Rungby, Anne‐Mette Hejl, Annemette Løkkegaard, Lisette Salvesen, Sara Bech, Mette Møller, Erik Hvid Danielsen, Morten Blaabjerg, Matthias Bode, Tomasz Brudek, Susana Aznar   +15 more
wiley   +1 more source

Association Between Pulse Pressure and Structural Brain Changes in Aging: A Systematic Review and Meta‐Analysis of Cross‐Sectional and Longitudinal Studies

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background The aim of this study was to investigate the associations between pulse pressure (PP) and age‐related structural brain changes including brain volumes, white matter hyperintensities (WMH), fractional anisotropy, silent brain lesions ...
Marina Cecelja, Ryan McNally, Jon Cleary, Phil Chowienczyk   +3 more
doaj   +1 more source

Putamen Atrophy as a Predictive Factor of Efficacy of GPi‐DBS in Dystonia‐Dyskinesia Syndrome Secondary to Perinatal Anoxic Encephalopathy

Movement Disorders, EarlyView.
Abstract Background Perinatal hypoxic–ischemic encephalopathy (HIE) is a severe condition resulting from impaired oxygen delivery to the developing brain, often leading to both motor deficits and dystonia‐dyskinetic syndromes (DDS). In selected cases, deep brain stimulation of the globus pallidus internus (GPi‐DBS) may provide a therapeutic option ...
Marylou Grasso, Pierre‐Olivier Moser, Sidonie Sauvageot, Valérie Gil, Emilie Chan‐Seng, Emily Sanrey, Philippe Coubes, Gaëtan Poulen   +7 more
wiley   +1 more source