Kinematic Features of Voluntary and Involuntary Head Movements in Cervical Dystonia
Objective: To identify kinematic metrics that characterise and differentiate the motor manifestations of Cervical Dystonia (CD). Background: Motor manifestations of CD include phasic torsional movements,…Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia
Objective: The aim is to identify the missing genetic causes of Paroxysmal Kinesigenic Dyskinesia (PKD) Background: Although the group of genes associated with PKD is…Intrafamilial phenotypic variability of DYT-ANO3: Analyzing 14 affected members with a novel variant
Objective: Delineation of phenotypic diversity of DYT-ANO3 in a large tribal family of Indian origin. Background: DYT-ANO3 (DYT24) is a rare cause of autosomal dominant…Paroxysmal non-kinesigenic dyskinesia: atypical neurological presentation of Lyme neuroborreliosis
Objective: To describe unusaul case of paroxysmal non-kinesigenic dyskinesia due to Lyme neuroborreliosis in a elderly female patient. Background: Nervous system Lyme disease is common…Cervical Dystonia Objectively Measured with Wearable Sensor System
Objective: To develop an objective measure for a dystonia subtype called cervical dystonia (CD) using a commercially available wearable sensor technology. Background: CD is a…Cortical Pencil Lining in Brain MRI of a Patient with Chorea and Hepatic Cirrhosis
Objective: To propose a novel etiology for cortical pencil lining Background: Cortical pencil lining refers to the presence of linear hypointense tracings within the cortical…Diagnostic challenges with novel SCA variants: A case of STUB1 mutation
Objective: We present a case of SCA48 found on multi-gene sequencing panel [MGSP] after negative dementia workup. Background: Spinocerebellar ataxia [SCA] is a genotypically &…A Device Agnostic Pipeline for Gait Detection and Assessment in Free-living and Clinical Environments
Objective: To provide a framework for a device agnostic gait analytics pipeline for standardizing and improving quantitative gait analysis using wearable sensors. Background: Gait impairments…Understanding the Neurochemical Basis of STN and GPi-DBS: A Human Microdialysis Study
Objective: Analyze the extracellular concentrations of GABA and glutamate in response to acute electrical stimulation during DBS surgery using samples obtained from STN, thalamus, GPi…The Impact of VPS35 D620N Mutation on Alternative Autophagy and its Reversal by Estrogen in Parkinson’s Disease
Objective: We investigated the relationship between alternative autophagy and VPS35 D620N mutant-related PD pathogenesis. Background: VPS35 is critically involved in the mechanisms of neurodegeneration observed…
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