Publications by authors named "G Garone"
Segmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?
Parkinsonism Relat Disord
January 2025
Segmental Brainstem Myoclonus (SBM) is a rare movement disorder characterized by rhythmic contractions of muscles innervated by brainstem segments. We report a 20-year-old patient with ADCK3-related spinocerebellar ataxia type 9 (SCAR9) presenting with sudden-onset myoclonic movements of the throat, tongue, and soft palate. Brain MRI showed stable findings, including dentate nucleus hyperintensities.
View Article and Find Full Text PDFChildren and Adolescent Patients with Variants in the -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.
medRxiv
October 2024
Article Synopsis
- Alternating hemiplegia of childhood (AHC) is a rare disorder linked with neurological and heart issues, particularly the ATP1A3-D801N variant, which causes a shorter QT interval and arrhythmia risks.
- A study at Duke University evaluated heart rate (HR) and QT intervals in individuals with AHC, revealing that those with the variant had less QT prolongation at lower HR compared to healthy controls.
- The findings suggest that individuals with ATP1A3-D801N show abnormal heart rhythms, indicating a need for closer monitoring and intervention for potential heart issues.
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.
Parkinsonism Relat Disord
September 2024
Introduction: CTNNB1 gene loss-of-function variants cause Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, OMIM 615075). Although motor impairment represents a core feature of this condition, the motor phenotype remains poorly described. We systematically assessed a cohort of 14 patients with disease-causing CTNNB1 variants to better characterize the movement disorder phenotype.
View Article and Find Full Text PDFArticle Synopsis
- Dyskinetic disorders (-RD) are a set of neurodevelopmental and movement issues caused by gene variants, with dyskinetic crises characterized by sudden, intense abnormal movements that pose treatment challenges.
- The study utilized a Delphi consensus method with international experts to create a framework on dyskinetic crises, covering definitions, triggers, diagnostic criteria, complications, and management strategies.
- The consensus defined dyskinetic crises, noted potential triggers like stress and infections, suggested acute management options such as benzodiazepines, and stressed the need for better education for parents and caregivers to facilitate early recognition and intervention.