Progressive myoclonic epilepsy ataxia syndrome associated with NUS1 gene mutation
Objective: To describe a rare case of NUS1 gene mutation related progressive epilepsy myoclonus ataxia syndrome. Background: Pathogenic variants of NUS1 gene have been associated…A randomized, phase 2a, double-blind, placebo-controlled clinical trial with NE3107 adjunctive to carbidopa/levodopa in patients with Parkinson’s disease
Objective: To evaluate the motor effects of NE3107 treatment in patients with levodopa-treated Parkinson’s disease (PD) experiencing motor fluctuations. Background: NE3107 is an oral, blood-brain…Hypoxic brain injury: a rare cause of chorea and dystonia
Objective: To present a rare case of chorea and dystonia development in a young patient following cardiac arrest. Background: An hypoxic brain injury can potentially…FGF14 repeat expansions: Case series of adult-onset cerebellar ataxia patients from Serbia
Objective: The aim of this study was to investigate the presence of pathogenic repeat expansion in the FGF14 gene in patients with adult-onset cerebellar ataxia…The predictive potential of circular walking in prodromal Parkinson’s disease
Objective: This study aims to provide quantitative markers of prodromal motor symptoms of idiopathic Parkinson’s disease (PD) from circular walking assessment with a single body-fixed-sensor.…Machine learning diagnosis of parkinsonian syndromes: network approach with two different sites
Objective: To test an automated differential diagnostic algorithm for parkinsonian syndromes based on machine learning and FDG-PET scans using subject scores for sets of validated…A minimal clinically important difference for UHDRS® Total Maximal Chorea score as a measure of chorea severity in Huntington disease
Objective: To establish a minimal clinically important difference (MCID) for the Unified Huntington Disease Rating Scale (UHDRS®) Total Maximal Chorea (TMC) score as a measure…Recommendations to tackle under-recognition and under-treatment of sialorrhea in Parkinson’s Disease: Is it time for a paradigm shift?
Objective: To leverage patient survey data and expert opinion to develop recommendations for managing sialorrhea in patients with Parkinson’s disease (PD). Background: Sialorrhea, or drooling,…Representation of movement repertoire in subthalamic neural circuits using a markerless 3D behavioral tracking system.
Objective: This study aimed to investigate the spatiotemporal encoding of neurons in the subthalamic nucleus using a mouse model. Background: The subthalamic nucleus is a…A cross regional investigation into the effects of fractures on the quality of life for elderly people with Parkinson’s disease in rural India
Objective: The negative impact of Parkinson’s Disease (PD) is rising as the global population ages and fractures with PD are additional health burdens. In rural…
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