Reversible encephalitic Parkinsonism due to bilateral substantia nigra lesion showing preserved nigrostriatal dopaminergic activity
Objective: A case of encephalitic Parkinsonism due to bilateral substantia nigra lesion showing reversible course with preserved nigrostriatal dopaminergic activities. Background: A few cases have…Homozygous ATP13A2 Mutation Associated Kufor-Rakeb Syndrome Expanding The Spectrum Of Juvenile Parkinsonism
Objective: To describe the clinical, genetic, and phenotypic aspects of a patient with Kufor-Rakeb syndrome (KRS), an ultra-rare juvenile parkinsonism caused by ATP13A2 mutations. Background:…Pilot Study of Vibrotactile Gait Cueing with the NUSHU X Sneaker in Parkinson’s Disease
Objective: To measure vibrotactile stimuli response with the NUSHU X sneaker in Parkinson’s disease (PD). Background: Gait disturbances in PD are complex and difficult to…Spinocerebellar Ataxia Type 27B: A Single-Center Experience
Objective: To describe the phenotypic spectrum of patients with Spinocerebellar ataxia 27B (SCA27B). Background: SCA27B is a recently recognized cause of adult-onset ataxia caused by…Investigating Cerebellar Network Alterations in Musician’s Dystonia
Objective: To determine whether musician’s dystonia (MD) is associated with abnormal cerebellar–cortical functional connectivity and whether cerebellar continuous theta burst stimulation (cTBS) can modulate these…Additive effect of Diabetes Mellitus and genetic risk variant in Parkinson’s Disease
Objective: To determine if subjects with DM and carriers of LRKK2 risk variant (R1628P) have an increased risk of PD compared tonon-carriers without DM. Background:…Tremor and Gait Worsening in Angelman Syndrome:Phenotypic Variability in Two Adult Sisters With Possible Valproate-Related Exacerbation
Objective: To describe the functional impact and phenotypic variability of tremor in two adult sisters with Angelman syndrome (AS) and explore a possible contribution of…Longitudinal Evolution of Freezing of Gait after STN-DBS in Parkinson’s disease: Insights from the GAIT-DBS multicenter Study
Objective: To evaluate the longitudinal evolution of FOG in patients with PD undergoing bilateral STN-DBS using validated clinical scales for gait and balance assessment. Background:…Single-Neuron Analysis of Mitochondrial DNA Alterations and Respiratory Chain Dysfunction in Parkinson’s Disease
Objective: To investigate mitochondrial DNA (mtDNA) alterations in single neurons from Parkinson's disease (PD) brains and determine their relationship with respiratory chain deficiency. Background: Mitochondrial dysfunction,…Development of a Web Based Neuro Recovery Roadmap Prototype for Visualizing and Tracking Multidisciplinary Rehabilitation in Movement Disorders
Objective: To design a dual-portal Software-as-a-Service (SaaS) platform to facilitate asynchronous monitoring, enhance ecological momentary assessment, and visualize multidisciplinary neurorestorative protocols in movement disorder patients.…
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