Electrophysiological biomarkers in genetic movement disorders [PDF]
BACKGROUND. Neurodegenerative diseases are diseases of the nervous system with progressive course leading to death. Treatment remains symptomatic. Development of neuroprotective agents has been hampered for various reasons. This includes the inability of
Schneider, K.S.A.I.M
core
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism
We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na(+)/K(+)-ATPase alpha3 subunit gene (ATP1A3). At the age of 21, he acutely developed severe dystonia and parkinsonism, which
Kim, J. Y. +4 more
core +1 more source
Acute and Chronic Local Field Potential Recordings in Dystonia—A Systematic Review
Abstract Dystonia is a hyperkinetic movement disorder increasingly conceptualized as a disorder of distributed network dysfunction involving the basal ganglia, cortex and cerebellum. Local field potentials (LFPs) recorded from deep brain stimulation (DBS) electrodes provide a unique opportunity to characterize the electrophysiological signatures ...
Jack Horan +6 more
wiley +1 more source
The influence of Na+,K+-ATPase on glutamate signaling in neurodegenerative diseases and senescence
Decreased Na+,K+-ATPase (NKA) activity causes energy deficiency, which is commonly observed in neurodegenerative diseases. The NKA is constituted of three subunits: α, β and γ, with four distinct isoforms of the catalytic α subunit (α1-4).
Paula Fernanda Kinoshita +6 more
doaj +1 more source
A Gap Analysis of Deep Brain Stimulation for Childhood‐Onset Movement Disorders
Abstract Background Deep brain stimulation (DBS) is an established and increasingly utilized therapy for childhood‐onset movement disorders. However, pediatric DBS poses unique challenges that are not adequately addressed by adult‐derived paradigms. Objective To identify key gaps in the current use of DBS in childhood‐onset movement disorders and to ...
Daniela Munoz‐Chesta +6 more
wiley +1 more source
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATPIA3 gene
Rapid-onset dystonia-parkinsonism (RDP) (also known as DYT12) is characterized by the abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene.
Riley, David +21 more
core +1 more source
Driving Cerebellar Theta Oscillations Interferes With Voluntary Neck Movements in Cervical Dystonia
Abstract Background Cervical dystonia (CD) is a movement disorder with a complex pathophysiology, including cerebellar abnormalities. Transcranial alternating current stimulation (tACS), a noninvasive neuromodulation technique capable of entraining brain oscillations, can transiently modulate neuronal activity and enhance resonant rhythms.
Davide Costa +9 more
wiley +1 more source
Behavioural Characterization of a Novel Zebrafish Genetic Model of Rapid-onset Dystonia Parkinsonism [PDF]
Rapid-onset dystonia parkinsonism (RDP) is a movement disorder that produces fixed postures and repetitive movements. RDP is caused by mutations in ATP1A3 which encodes a subunit of the neuronal Na+/K+ transporter that influences neuronal firing ...
Rahmanian, Shahrzad
core
Delayed-onset drug-induced movement disorders
Delayed-onset drug-induced movement disorders (tardive syndromes) remain an important clinical problem. There are several phenomenologically and pharmacologically distinct types of tardive syndromes. The term tardive dyskinesia has been used to refer to
Oya Öztürk, Erhan Kurt, Timuçin Oral
doaj
Kinematic Features of Voluntary and Involuntary Head Movements in Cervical Dystonia
Abstract Background Cervical dystonia (CD) has a varied motor presentation, combining abnormal postures with complex involuntary head movements. Classification of these motor patterns remains imprecise, relying on descriptive terminology without robust definitions. Objectives To provide a kinematically‐grounded description of the motor phenomenology of
Thomas Hart +6 more
wiley +1 more source

