Novel Partial Gene Deletion in CaCNA1A Presenting with Gait Ataxia, Vertigo, and Abnormal Eye Movements
Objective: To report a partial gene deletion in CaCNA1A associated with ataxia. Background: CaCNA1A gene, located on chromosome 19p, encodes the alpha-1a subunit of the…Identification and Screening of Candidate Genes for Paroxysmal Movement Disorders by Next Generation Sequencing Approach for Developing Molecular Diagnostics.
Objective: To explore the clinical and genetic features of Paroxysmal Movement Disorders by using Whole Exome Sequencing. Background: Paroxysmal movement disorders (PMDs) comprise both paroxysmal…Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
Objective: To report on the frequency of intronic GAA expansions in the fibroblast growth factor 14 (FGF14) gene in patients with an unexplained cerebellar ataxia,…Episodic ataxia type 2: a previously undescribed variant in the CACNA1A gene
Objective: To describe a previously unreported variant in the CACNA1A gene in a patient with episodic ataxia type 2 (EA2) phenotype. Background: EA2 is the…Endocannabinoid Dysfunction in Human Disease: Neuro-Ocular DAGLA-related Syndrome (NODrS), a unique pediatric condition
Objective: To define a new pediatric movement disorder and conclusively link the endocannabinoid system to human disease. Background: The endocannabinoid system is a highly conserved…Genotype-Phenotype correlations of Episodic Ataxia (EA). MDSGene Systematic Review
Objective: To systematically review genotype-phenotype correlations for the four known genes causing EA. Background: EA is a group of heterogeneous disorders characterized by recurrent attacks…Update from the international MDSGene initiative: International team science to perform genotype-phenotype correlations for hereditary movement disorders
Objective: The international MDSGene initiative aims to extract, summarize, curate, and illustrate data from movement disorder patients on the phenotypic and mutational level for which…Hearing Evaluation (Peripheral and Central) in Patients with Sporadic Ataxia
Objective: To describe the audiological and electrophysiological results in patients with sporadic ataxia. Background: Patients with progressive non-familial adult ataxia are classified into a sporadic…Novel CACNA1A gene mutation in a Taiwan family with episodic ataxia type 2
Objective: To illustrate a family of episodic ataxia type 2 with atypical presentations and a novel mutation of CACNA1A gene Background: The episodic ataxias (EAs)…Vestibulo-Ocular Reflex Assessment in Patients with Sporadic Ataxia
Objective: To identify vestibular alterations in patients with sporadic ataxia (SA). Background: Sporadic ataxia (SA) is classified as a neurological condition characterized by adult onset,…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.