Diagnostic yield of Whole-genome sequencing in Genetic Movement disorders
Objective: To assess the breadth of presentations to a tertiary neurogenetics clinic and evaluate the diagnostic yield of whole-genome sequencing (WGS) in genetic movement disorders.…Parkinsonism Due to Delayed Neurotoxicity of CAR-T Therapy
Objective: We report a case of secondary parkinsonism due to delayed neurotoxicity induced by ciltacabtagene autoleucel (cilta-cel) chimeric antigen receptor T-cell therapy (CAR-T) as well…Diagnostic mismatches between clinical assessment, imaging and alpha-synuclein biomarkers in parkinsonian syndromes
Objective: To analyze the frequency of matching information provided by traditional clinical assessment, dopamine transporter (DaTscan), and skin biopsy results in patients with undiagnosed parkinsonian syndromes. Background:…Integration of Multivariate Time Series Analysis in Assessing Balance Control: A Comprehensive Review of Current Research
Objective: To review the application of multivariate time series (MTS) analysis in assessing balance control and its potential for improving rehabilitation strategies. Background: Balance control…Atypical Parkinsonism in the Setting of Normal Pressure Hydrocephalus and a Colloid Cyst: Diagnostic Challenge
Objective: To present a case of atypical parkinsonism likely secondary to normal pressure hydrocephalus (NPH) and a colloid cyst at the foramen of Monro. Background:…Parkinsonism after Post-Anoxic Brain Injury
Objective: To describe two cases of parkinsonism caused by anoxic brain injury. Background: Movement disorders occur in about 40% of patients following anoxic brain injury,…Modulation of working memory in prodromal DLB by non-invasive brain stimulation of the striatum and cerebellum
Objective: We aimed to modulate working memory (WM) in patients with MCI with Lewy bodies (MCI-LB) by non-invasive stimulation of the striatum with or without…Dopamine Responsive ATP1A3 Dystonia Parkinsonism A Case Report
Objective: We present a rare familial case of a patient with ATP1A3 dystonia parkinsonism, which improved with levodopa. Background: Rapid onset dystonia parkinsonism can be…A Case of Autosomal Dominant Hypocalcemia Presenting with Parkinsonism and Widespread Brain Calcifications
Objective: To describe a case of CASR mutation-related hypocalcemia presenting with progressive movement disorder, cognitive decline, and widespread brain calcifications, illustrating the overlap between metabolic and neurodegenerative disorders.…Exploring the Association of APOE Polymorphism and the Clinical Course of CSF1R-Related Disorder
Objective: To assess the frequency of APOE alleles and their association with clinical course of Colony Stimulating Factor 1 Receptor-Related Disorder (CSF1R-RD). Background: CSF1R-RD is…
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