Pressure Sensor Insole Gait Assessment for Parkinson’s Disease patients: A longitudinal study.
Objective: To evaluate a computational analysis of gait, based on pressure sensors insoles data, by correlating it with clinical assessments of motor symptoms in Parkinson's…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…Case Report of Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Ataxia
Objective: We report the spinocerebellar ataxia 13 (SCA13) patient who demonstrated childhood-onset pure cerebellar ataxia. Background: SCA13 is a rare cause of autosomal-dominant cerebellar ataxia,…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…An Unusual and Treatable Cause of Cerebellar Ataxia and Dystonia: Homozygous COQ4 Gene Mutation
Objective: To report a case of Coenzyme Q10 (CoQ10) deficiency due to COQ4 variants causing adult-onset ataxia and dystonic postures. Background: CoQ10 is an essential…Spastic Ataxia Associated with Congenital Myasthenia Related to the VAMP1 Gene: Report of an Affected Family in Brazil.
Objective: To describe a family with both congenital myasthenia and spastic ataxia Background: The vesicle-associated membrane protein - VAMP1 is associated with synaptic activation in…Phenotypic Aspects of Huntington’s Disease-Like 2 in Brazil and the World: Literature Review
Objective: To describe the known phenotypic profile of HDL2 patients currently described in the literature. Background: HDL2 is an autosomal dominant neurodegenerative disorder caused by…Acute Chorea in The Emergency Department Related to Systemic Lupus and Antiphospholipid Syndrome: A Case Report
Objective: To report a case of acute chorea syndrome in a young patient, secondary to Systemic Lupus Erythematosus (SLE) and Antiphospholipid Syndrome (APS). Background: Movement…Subacute Combined Degeneration in Wilson Disease: Treatment Dilemma
Objective: To report a Wilson disease patient (WD) with subacute combined degeneration (SCD) from zinc and D-penicillamine. Background: Copper-lowering treatments are main strategies to reduce…KMT2B-Related Dystonia And DBS: Tertiary Center Experience
Objective: This study aims to evaluate the functional outcomes and effectiveness of deep brain stimulation (DBS) in patients with genetic dystonia secondary to a KMT2B …
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