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…Phenotypic Spectrum of Movement Disorders in TBC1D24 Gene Variants: A Case Series
Objective: To report the phenotypic spectrum of movement disorders in 5 pediatric patients with TBC1D24 gene variants and provide accompanying video. Background: The TBC1D24 gene…Novel CUX2 Mutation Identified in Patient with Clinical Paroxysmal Nonkinesigenic Dyskinesia
Objective: In this case, we present a novel mutation in the regulatory region for CUX-2 that is associated with clinical PNKD. Background: Paroxysmal nonkinesigenic dyskinesias…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…Episodic Rocking Movements in a Young Boy.
Objective: To present a unique case of a 7-year-old boy with episodic rocking and break-dancing movements from the last 3 years Background: Abnormal episodic movements…A better understanding of Paediatric Paroxysmal Movement Disorders
Objective: To clinically characterise paroxysmal movement disorders (PxMD) and determine prevalence in a paediatric population for the first time. Background: Characterised by episodic involuntary movements,…Epidemiological, clinical and paraclinical characteristics of paroxysmal dystonia in multiple sclerosis : A study of Tunisian cohort
Objective: To describe the specificities of paroxysmal dystonia (PD) in a cohort of Tunisian Multiple Sclerosis (MS). Background: Movements disorders are uncommon in multiple sclerosis.…Paroxysmal Kinesigenic Dyskinesia caused by a novel missense variant in NBEA
Objective: We describe a patient who presented to our movement disorder center for unilateral dystonic spells which last seconds and triggered by sudden movements. Genetic…PRRT2 paroxysmal dyskinesia mimicking functional motor disorders: a pediatric case.
Objective: This report highlights how challenging the differential diagnosis between organic and functional motor disorders may be. Indeed, atypical presentations and overlapping features of movement…Paroxysmal dystonia with phenotypic variability in ECHS1 mutation twin carriers
Objective: To describe 2 monozygotic twins carrying biallelic ECHS1 mutations with different clinical phenotypes Background: ECHS1 encodes for a mitochondrial short chain enoyl-CoA hydratase, a…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.