Late-Onset Ataxia, Tremor and Spastic Paraparesis associated with the a Novel CCDC88C Variant: Expanding the Phenotypic Spectrum of mutation in the CCDC88C gene
Objective: to describe a Croatian family presenting with late-onset spastic paraparesis and cognitive decline associated with a distinct amino acid substitution. Background: Variants in CCDC88C…Remotely Administered Reaction Time Correlates in Progressive Supranuclear Palsy
Objective: To evaluate the cross-sectional associations of remotely administered reaction time (RT) in PSP. Background: PSP causes cognitive dysfunction, with severe deficits in psychomotor speed,…Clinical and Genetic spectrum of Developmental dyskinetic encephalopathy – Experience from a Tertiary care centre
Objective: To provide unique data on the clinical and genetic spectrum of developmental dyskinetic encephalopathies. Background: Developmental dyskinetic encephalopathy(DDE) is a recently described clinically and…Exploring the Role of Aperiodic and Periodic Spectral Activity in Guiding Deep Brain Stimulation Electrode Selection for Childhood Dystonia
Objective: To evaluate the potential of aperiodic and periodic neural activity in guiding clinical deep brain stimulation (DBS) programming for children with dystonia. Background: DBS…Treatment of Status Dystonicus with Deep Brain Stimulation in a Child with SOX2-Anophthalmia Syndrome
Objective: To report on the clinical course and outcomes following bilateral globus pallidus pars interna deep brain stimulation (GPi DBS) in a child with SOX2-anophthalmia…Determination of the Minimal Clinically Important Difference in the Yale Global Tic Severity Scale Total Tic Score in a Pediatric Population With Tourette Syndrome Receiving Pharmacotherapy
Objective: The aim was to determine the minimal clinically important difference (MCID) on the Yale Global Tic Severity Scale (YGTSS), using the Clinical Global Impression…Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series
Objective: The Powassan virus is a rare neurotropic, tick-borne arbovirus associated with meningoencephalitis. Despite the virus’s known predilection for the basal ganglia, there are no…GNAI1-Associated Childhood-Onset Hyperkinetic Movement Disorder: A Case Report
Objective: To describe the clinical presentation, diagnostic evaluation, and genetic findings in a 7-year-old male with a hyperkinetic movement disorder associated with a novel GNAI1…Expanding the Phenotypic Spectrum of CACNA1A Variants: A Single-Center Experience
Objective: This study aims to describe pediatric patients with CACNA1A variants, detailing the clinical phenotype, with emphasis on the movement phenomenologies, genetic variants, electrophysiological and…Stroke, Chronic Ataxia and Tremor in a Pediatric Patient with c.2137C>A Genetic Variant in CACNA1A
Objective: To describe a pediatric case of chronic non-progressive ataxia, nystagmus, kinetic tremor, refractory epilepsy, and arterial ischemic stroke (AIS) associated with a CACNA1A c.2137C>A…
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