Circadian rhythm alterations in an in vitro cellular model of Spinocerebellar ataxia type 17
Objective: To study in vitro expression of circadian rhythm genes (CLOCK, BMAL) in fibroblasts and neural cells of SCA17 patients. Background: Spinocerebellar Ataxia 17 (SCA17)…Changes in the AKT/GSK3 pathway in the cerebellum increase susceptibility to movement disorders in a rat model of post-traumatic stress disorder
Objective: In an effort to investigate the role of PTSD in the aetiology of movement disorders, we assessed changes related to PTSD using the neurotrophic…Multi-level and multi-pattern lower- and upper-limb spasticity treatment with incobotulinumtoxinA in children and adolescents with cerebral palsy
Objective: Assess efficacy and safety of incobotulinumtoxinA in lower-limb (LL) or combined LL/upper-limb (LL/UL) spasticity in children and adolescents with cerebral palsy (CP). Background: Ambulant…Benign Infantile Tremor Syndrome (BITS): a new movement disorder
Objective: We present infants at our institution presented with action tremor with onset weeks to months later after birth and otherwise similar to neonatal jitteriness. Background: Several benign movement disorders in infancy have been described including…Management practices and long-term follow up of pediatric functional (psychogenic) movement disorder at a tertiary care center
Objective: We evaluated management practices and compared efficacy of specific interventions on remission of symptoms of functional movement disorder (FMD) in our pediatric population. Background: Current recommendations of managing FMD revolve…Utility of VMAT2 inhibitors in management of stereotypy in children: a series of six patients
Objective: We aim to evaluate the effectiveness of VMAT2 inhibitors in the treatment of stereotypy. Background: Stereotypies are continual, rhythmic, patterned movements that can occur in typically-developing children, and are…Visuospatial training improved the visuospatial abilities in child with cerebral palsy: case report
Objective: The goal of this study was to assess the impact of 16 weeks of visuospatial training on the visuospatial abilities in 6 years of…Mutations of COX20 affect the assembly and function of complex IV causing early onset ataxia, dystonia and neuropathy
Objective: To find the causes of an early onset complex movement disorder in two sisters from a non-consanguineous family, and confirm the COX20 variants responsible for such mitochondrial…Kinematic control in children with essential tremor
Objective: We aim to explore motor control in children with essential tremor (ET) utilizing the Kinarm exoskeleton robot. Background: Tremor is one of the most…Diverse Phenotypic Variations Among Siblings with NBIA: A Case Report and Review of Literature
Objective: The purpose of this case report and literature review is to increase the awareness of practicing clinicians regarding the mosaic clinical pattern this disease…
