Bilateral Pallidal Deep Brain Stimulation in Secondary Dystonia in Louis-Bar-Syndrome Patients – A Report of Two Cases-
Objective: Deep Brain Stimulation (DBS) is an established treatment for various movement disorders, including primary dystonia. The effect in secondary dystonia is less well studied.…Efficacy and Safety of Ecopipam for Tourette Syndrome (TS): Results From a Phase 3, Randomized, Double-Blind, Placebo-Controlled Withdrawal Trial
Objective: To evaluate the efficacy and safety of ecopipam, a dopamine D1 receptor antagonist, as a maintenance therapy in children, adolescents, and adults with TS.…Stereotypy and other Movement Disorders Following Osmotic Demyelinating Syndrome: a case report
Objective: This paper aims to present a case of stereotypy as a unique manifestation of ODS in a Filipino adult female, along with the co-occurrence…Using Zebrafish Model to Investigate Complex Hereditary Spastic Paraplegia Caused by EPT1 Variants
Objective: To generate disease-representative zebrafish models using CRISPR-Cas9 technique.To characterise the zebrafish models by performing phenotypic characterization, neurobiological experiments, lipidomic and RNASeq studies.To test targeted…Neurological manifestations and genotypes of Gaucher disease type 3: MDSGene systematic review
Objective: To characterize the spectrum of neurological manifestations of Gaucher disease type 3 (GD3) and identify the most common GBA1 variants. Background: Gaucher disease is…Movement disorders as a manifestation of aceruloplasminemia a case report
Objective: To develop a step-by-step diagnostic approach to aceruloplasminemia with initial presentation of movement disorders Background: Aceruloplasminemia is a rare iron overload disorder with autosomal…Development of Gene Panel by Next‐Generation Sequencing Approach for Diagnosis of Paroxysmal Movement Disorders
Objective: To develop a targeted gene panel for Paroxysmal Movement Disorders using Whole Exome Sequencing. Background: Paroxysmal movement disorders (PMDs) are a neurological disorder, characterized…Spinocerebellar Ataxia Recessive Type 7 (SCAR7) in a Consanguineous Family: A Case Report
Objective: Spinocerebellar ataxia autosomal recessive type 7 (SCAR7) is a rare disorder caused by biallelic pathogenic variants in TPP1. It usually manifests in childhood or…Paroxysmal Nonkinesigenic Dyskinesia in GLUT1 Deficiency Syndrome: A Rare Manifestation
Objective: We describe a rare case of paroxysmal nonkinesigenic dyskinesia (PKND) in a patient with GLUT1 deficiency syndrome (GLUT1-DS). Background: Various movement disorders are a…A Clinical Overlap Presentation of Episodic Ataxia Type 2 and Periodic Paralysis with a Novel Mutation in CACNA1A
Objective: To describe a case of episodic ataxia type 2 (EA2) with features of periodic paralysis (PP) associated with a novel mutation in CACNA1A. Background:…
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