Compound heterozygous mutation of the Beta galactosidase 1 gene presenting with familial dystonia and spondylo-epiphyseal dysplasia
Objective: To describe a family with dystonia and spondylo-epiphyseal dysplasia Background: Childhood onset Generalized dystonia is usually associated with genetic causes. Method: We present a…Study of age related neurodegeneration of Cerebellum Basal Ganglia direct subcortical white matter tracts using fixel-based analysis.
Objective: The goal of the study is to use diffusion weighted imaging to confirm and expand on findings of structural tracks linking cerebellum (CB) and…Perceive: A data extraction and analysis toolbox for brain signals from sensing enabled deep brain stimulators
Objective: Develop an open source toolbox that facilitates data extraction, analysis, artifact correction and standardization for the DBS research community. Background: Novel sensing enabled implantable…High frequency neck vibration changes the pallidal activity in cervical dystonia
Objective: The aim of the current study is to characterize changes in spontaneous pallidal neuronal activity during modulation of peripheral proprioceptive input by means of…Hyperkinesia associated with tuberculous meningitis in children: report of 2 cases.
Objective: We present two pediatric patients with normal neurodevelopment, and incomplete vaccination schedule due to lack of BCG vaccine, who developed hyperkinesias secondary to tuberculous…Normal-sized Perivascular Space in Basal Ganglia Related to Motor Phenotypes in Parkinson Freezers
Objective: With 7T MRI, we aimed to study the relationship between the initial motor phenotype of Parkinson’s disease (PD) and normal-sized PVSs (nPVSs) burden in…Metabolic activity and perfusion of basal ganglia in patients with hemichorea and carotid stenosis
Objective: To determine whether stenosis of internal carotid artery (ICA) impacts the activity and perfusion of basal ganglia (BG) in six hemichorea (HC) patients. Background:…Case of Chorea Hyperglycemia Basal Ganglia syndrome with normal glucose
Objective: To report a case of chorea hyperglycemia basal ganglia syndrome (CHBG) with normal glucose. Background: Elderly persons with CHBG usually have high glucose (average…Cognitive profiling in a cohort of Primary Familial Brain Calcification (PFBC) patients
Objective: To investigate neuropsychological and behavioural profile of PFBC patients. Background: PFBC is a rare genetic neurodegenerative disorder characterized by abnormal calcium phosphate deposition basal…Connectomic Analysis of SNc and VTA Projections to the Striatum and Cortex
Objective: To investigate the dopaminergic neural tracts of healthy individuals using Diffusion MRI on Human Connectome Project Data. Background: Classically, the DA system has been…
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