Clinical and Genetic Profile of Spinocerebellar Ataxias in a Tunisian Cohort
Objective: Our aim was to determine the clinical, genetic and radiological characteristics of spinocerebellar ataxias (SCA) in a Tunisian cohort. Background: SCA is a heterogenous…Prevalence of Heterozygous ATP7B Mutation in Patients with Movement Symptoms
Objective: The objective of our study is to elucidate the prevalence of heterozygous ATP7B mutation in patients with movement symptoms. We aim to determine whether…When the Nephrologist calls… Ataxia, Seizures, and Hypokalemia – EAST syndrome and KCJN10 gene mutation
Objective: To present a case study of a 32-year-old woman with pathogenic variant in KCJN10 gene exhibiting ataxia and dystonic posturing with recurrent severe hypokalemia…Phenotypic spectrum and natural history of POLR3A-associated spastic ataxia
Objective: To foster trial-readiness, we delineate the full phenotypic spectrum and provide piloting longitudinal natural progression data of POLR3A-associated spastic ataxia in a large international cohort.…The first Indian patient with Hereditary Spastic Paraparesis type 42 due to a de novo SLC33A1 variant
Objective: Hereditary Spastic Paraparesis (HSP) 42 is an autosomal dominant HSP caused by pathogenic mutations in the SLC33A1 gene. This subtype has been reported from a…Distinguishing Parkinson’s disease from atypical Parkinsonian syndrome using multistage deep learning based on dopamine transporter imaging
Objective: We made the diagnostic model using a deep learning algorithm based on dopamine transporterWe made the diagnostic model using a deep learning algorithm based…The novel Gait Cycle Detection Network (GCDN) for Video based gait Analysis based on single 2D RGB video
Objective: The goal of this work is to train a network that detects a gait cycle precisely to improve the accuracy of a video-based gait…Clinical and Imaging Changes in Parkinson’s Disease Patients Under Spinal Cord Stimulation: A Double Blinded Analysis
Objective: Evaluate clinical and biomarker changes from spinal cord stimulation (SCS) in Parkinsons Disease (PD) under sham controlled randomized evaluation. Background: SCS has been proposed…Impact of Altered Cerebrovascular Reactivity on Midbrain Degeneration, Perfusion and White Matter
Objective: To evaluate whether altered cerebrovascular reactivity contributes to midbrain degeneration, perfusion abnormalities, or white matter disease in patients with Parkinson’s disease (PD). Background: Cerebrovascular…Effects of ATH434, a Clinical-Phase Small Molecule with Moderate Affinity for Iron, in a Parkinson’s Disease Model in Macaques
Objective: (1) Determine whether oral ATH434 improves motor performance in a non-human primate hemiparkinasonian model when administered after symptom onset. (2) Relate observations to changes…
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