Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+, K+-ATPase a3 missense mutant mice [PDF]
, 2013 Missense mutations in ATP1A3 encoding Na+,K+-ATPase α3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months. Affected children tend to be of short stature
Dawson, Neil +10 more
core +5 more sources
Cognitive impairment in rapid-onset dystonia-parkinsonism. [PDF]
Mov Disord, 2014 Rapid-onset dystonia-parkinsonism (RDP) is caused by mutations in the ATP1A3 gene. This observational study sought to determine if cognitive performance is decreased in patients with RDP compared with mutation-negative controls.
Cook JF +10 more
europepmc +2 more sources
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To study the clinical characteristics, diagnosis, treatment and prognosis of a patient with childhood⁃onset rapid⁃onset dystonia Parkinsonism (RDP) caused by ATP1A3 gene mutation, and review the related literature.
KANG Qing⁃yun +4 more
doaj +1 more source
Frontiers in Human Neuroscience, 2021 IntroductionDystonic opisthotonus is defined as a backward arching of the neck and trunk, which ranges in severity from mild backward jerks to life-threatening prolonged severe muscular spasms. It can be associated with generalized dystonic syndromes or,
Kantharuby Tambirajoo +3 more
doaj +1 more source
Anesthetic Management of a Child With Rapid-Onset Dystonia-Parkinsonism (DYT12-ATP1A3): A Case Report [PDF]
, 2021 peer reviewedRapid-onset dystonia-parkinsonism also known as DYT12-ATP1A3 is an extremely rare neurological disease. Patients develop dystonia, bradykinesia, postural instability, dysarthria, and dysphagia.
Lois, Fernande +8 more
core +1 more source
Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump. [PDF]
PLoS Genetics, 2017 Mutations in the neuron-specific α3 isoform of the Na+/K+-ATPase are found in patients suffering from Rapid onset Dystonia Parkinsonism and Alternating Hemiplegia of Childhood, two closely related movement disorders.
Toke Jost Isaksen +7 more
doaj +1 more source
Failure of Pallidal Deep Brain Stimulation in a Case of Rapid-Onset Dystonia Parkinsonism (DYT12). [PDF]
Mov Disord Clin Pract, 2015 Brücke C +5 more
europepmc +2 more sources
Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome
Frontiers in Neurology, 2021 Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention for medically refractory segmental and generalized dystonia in both children and adults.
Stephen Tisch +2 more
doaj +1 more source
Development of parkinsonism after long-standing cervical dystonia – A cohort [PDF]
, 2021 INTRODUCTION: Dystonia occurring in the context of parkinsonism is well-known, e.g. as foot dystonia in young-onset Parkinson's disease (PD), anterocollis in multisystem atrophy (MSA) or blepharospasm (levator inhibition) in progressive supranuclear ...
Di Lazarro, G +10 more
core +3 more sources
Molecular and clinical characteristics of ATP1A3-related diseases
Frontiers in Neurology, 2022 ObjectiveWith detailed studies of ATP1A3-related diseases, the phenotypic spectrum of ATP1A3 has greatly expanded. This study aimed to potentially identify the mechanisms by which ATP1A3 caused neurological dysfunction by analyzing the clinical features ...
Yinchao Li +9 more
doaj +1 more source