Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease
Objective: To highlight a less recognised but characteristic manifestation of ATP1A3-related disease. Background: ATP1A3 mutations cause a wide clinical spectrum, and are one of the…Auditory-Perceptual Voice and Speech Evaluation in ATP1A3-positive Patients
Objective: To characterize speech and voice dysfunctions in ATP1A3 mutation positive individuals compared to concurrent mutation negative family controls. Background: Bulbar symptoms are frequent in…Putative treatment of Parkinson’s Disease using extract of Bacopa monnieri
Objective: Bacopa monnieri is largely treasured as a revitalizing herb used by Ayurvedic medical practitioners for almost 3000 years. The herb has been mentioned in…Encephalopathy in a Japanese patient with Rapid-Onset Dystonia-Parkinsonism carrying a Novel ATP1A3 mutation
Objective: To investigate underlying pathomechanisms of DYT/PARK-ATP1A3 in Japanese patient with rapid-onset dystonia-parkinsonism (RDP). Background: Mutations in ATP1A3 would lead to development of various neurological…The phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP) is broader than previously defined
Objective: To update the phenotype of RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene,…Striatum of the ouabain-induced pharmacological DYT12 mouse model is affected by structural and metabolic abnormalities
Objective: To study changes in neuronal morphology and neurotransmitter metabolism in the striatum of a pharmacological DYT12 mouse model after induction of a dystonic phenotype…A case of levodopa responsive rapid onset dystonia-parkinsonism
Objective: We describe and demonstrate by video a young man with rapid onset dystonia parkinsonism who has a robust response to levodopa. Background: Rapid onset…Study of prevalence of non-motor symptoms in typical and atypical parkinsonism as compared to age and sex matched healthy controls
Objective: 1) To study prevalence and clinical characteristics of non-motor symptoms (NMS) in idiopathic parkinson disease (IPD) and atypical Parkinsonism (APD) as compared to age…Two sides of a Rare Coin- First report of Rapid onset dystonia-parkinsonism (RDP) and Alternating Hemiplegia of Childhood (AHC) with paroxysmal dystonia from India.
Objective: To report clinical findings in two Indian cases: 1. RDP and 2. AHC with paroxysmal dystonia. These two rare conditions are allelic disorders caused by…The distinguishing clinical features of rapid-onset-parkinson-dystonia (RDP) syndrome due to ATP1A3 mutations
Objective: To determine characteristics that distinguish individuals with presentation suggestive of RDP in ATP1A3 mutation carriers compared with non-carriers. Background: Mutations in the ATP1A3 gene…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.