Results 41 to 50 of about 5,461 (178)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 more
wiley   +1 more source

Index Finger Pointing (Likely a Subtle Form of Hand Dystonia): Prevalence Across Movement Disorders

open access: yesFrontiers in Neurology, 2018
Objective: To investigate the prevalence of index finger pointing (IFP) while walking, which is likely a subtle form of hand dystonia, in cranio-cervical focal dystonia syndromes, Parkinson's disease (PD), essential tremor (ET), and controls.Methods: We ...
Ana Vives-Rodriguez   +3 more
doaj   +1 more source

Treatment of dystonia and tics

open access: yesClinical Parkinsonism & Related Disorders, 2020
Treatment of dystonia and tics continues to evolve. In dystonia, while oral agents such as benzodiazepines, baclofen and anticholinergics remain in use, botulinum toxin (BoNT) continues to be regarded as the treatment of choice for focal and segmental ...
Steven Bellows, Joseph Jankovic
doaj   +1 more source

Remote Magnetomechanical Neuromodulation Uncovers Therapeutic Mechanisms for Alleviating Parkinsonian Symptoms in Freely Moving Mice

open access: yesAdvanced Science, EarlyView.
Magnetomechanical neuromodulation using magnetic nanodiscs enables remote activation of neurons. In a hemiparkinsonian mouse model, alternating magnetic fields actuate the nanodiscs to generate torque that opens mechanosensitive ion channels within the subthalamic nucleus, thereby modulating basal ganglia motor circuitry.
Anouk Wolters   +12 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

POST-STROKE FOCAL HAND DYSTONIA

open access: yesThe Professional Medical Journal, 2018
Objectives: To determine the effects of Botulinum toxin A (BoNTA) with taskspecific training on hand function and quality of life in patients with post stroke focal dystonia ofhand. Study Design: Randomized Controlled Trial. Place and Duration of Study: This studywas conducted in Holy family hospital, The Neurocounsel and Chambeli Rehabilitation ...
Muhammad Umar   +2 more
openaire   +3 more sources

A guide to neuromodulation in drug‐resistant epilepsy

open access: yesEpileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh   +10 more
wiley   +1 more source

NMDAR‐antibody encephalitis: Seizure semiology and EEG findings

open access: yesEpileptic Disorders, EarlyView.
Abstract Background N‐methyl‐D‐aspartate receptor antibody encephalitis (NMDAR‐Ab‐E) is an autoantibody‐mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonomic instability. Objectives To describe acute seizure semiology and electroencephalogram (EEG) findings in patients with a ...
Maria Emilia C. Andraus   +6 more
wiley   +1 more source

Motor training as treatment in focal hand dystonia

open access: yesMovement Disorders, 2005
AbstractFocal hand dystonia may arise as a result of aberrant plasticity from excessive repetitive use. Improvement might be possible with appropriate motor training. Focusing on trying to decrease abnormal overflow of movement to fingers not involved in a task, we developed a motor training program for individualized finger movements.
Kirsten E, Zeuner   +6 more
openaire   +3 more sources

Focal hand dystonia after cervical whiplash injury [PDF]

open access: yesJournal of Neurology, Neurosurgery & Psychiatry, 2003
There is currently a general consensus of agreement that dystonia is a disease of the basal ganglia, although dystonic symptoms have been observed in association with lesions in various different sites of the sensory and motor pathways.1 In particular, cervical intramedullary lesions have been reported as being a rare cause of focal hand dystonia,2 ...
TAMBURIN, Stefano, Zanette G.
openaire   +2 more sources

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