Homozygous PRRT2 Frameshift Mutation Presenting with Infantile Onset Seizures and Childhood Episodic Ataxia
Objective: To report a rare presentation of a homozygous PRRT2 frameshift mutation manifesting as infantile-onset seizures followed by childhood episodic gait imbalance. Background: PRRT2 mutations…Anti-Yo Syndrome Presenting as an Isolated Head Tremor with Vertigo
Objective: To highlight the prodromal and syndromic features of Anti-Yo/PCA-1 syndrome. Background: A 50-year-old female initially presented with a 1-month history of headaches and vertigo.…SCA27B, an Elusive Diagnosis with Effective Symptomatic Treatment: Two Cases of Late-Onset Progressive and Episodic Cerebellar Ataxia
Objective: We present two cases of late-onset progressive and episodic cerebellar ataxia with prolonged courses of complex diagnostic work-up and management prior to genetic Spinocerebellar…Resting-state EEG analysis defines the signature of CACNA1A and GAA-FGF14 related channelopathies
Objective: The aim of this study was to investigate EEG metrics in patients with CACNA1A and GAA-FGF14 related diseases and to compare them with those…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…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:…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.