ATP8A2 Mutation in a Tunisian Family : Expanding The Clinical Spectrum
Objective: Our aim was to report the clinical and paraclinical findings from two siblings who presented with a new phenotype of ATP8A2 gene mutation. Background:…Quantitative Assessment of X-linked Dystonia-Parkinsonism Using Wearable Sensing Technology
Objective: To create a quantitative, objective framework for assessing combined dystonia parkinsonism using kinematic data from wearable sensors combined with machine learning (ML), enabling clinician-independent…Clinical Outcomes and Local Field Potential Characteristics in Bilateral GPi DBS in 2 cases of X-Linked Dystonia Parkinsonism
Objective: We describe clinical outcomes and local field potential characteristics in 2 cases of fulminant onset XDP who went on to have bilateral GPi DBS…Movement Disorders In Children With Monoamine Neurotransmitter Disorders
Objective: To describe clinical, para-clinical, therapeutic and evolutionary characteristics of movement disorders (MD) and oculogyric crises (OC) in children with monoamine neurotransmitter disorders (MND) Background:…Complete Resolution of Tardive Dystonia After Bilateral Globus Pallidus Interna Deep Brain Stimulation
Objective: To share an exciting case of a young lady with disabling generalized Tardive Dystonia (TD) with complete resolution of symptoms following bilateral Globus pallidus…Clinical Characteristics and Management Practices of Pediatric Status Dystonicus
Objective: We present 20 cases of pediatric status dystonicus at a major pediatric center and describe their clinical course. Background: Status dystonicus (SD) is a rare, life-threatening…Writing dystonia in children improves after chronic stimulation of globus pallidus internus
Objective: To analyze clinical characteristics of writing dystonia in a pediatric cohort, and test clinical efficacy of globus pallidus internus (GPi) chronic deep brain stimulation…Disparities in Botulinum Toxin Utilization for Cervical Dystonia in a United States Medicare Population
Objective: To examine the disparities in utilization of botulinum toxin (BoNT) injections for patients with cervical dystonia (CD) within the United States Medicare population. Background:…Genetic Variant in the VPS16 Gene in a 44-year-old Patient with Generalized Dystonia
Objective: To report a case of generalized dystonia with a genetic variant in VPS16 gene, possibly related to AD dystonia 30. Background: Dystonia is characterized…Clinical and genetic characteristics of PLA2G6-parkinsonism in southwest of China and a review of heterogeneity of phenotype and genotype between Asian and Caucasian patients
Objective: Objective: To summarize clinical characteristics, imaging features and genetic data of PLA2G6 mutant patients in southwest of China, and to investigate the heterogeneity between Asian and…
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