Electrophysiologic and Kinematic characterization of degenerative cerebellar ataxia
Objective: To characterize degenerative cerebellar ataxia by measuring quantitative electrophysiology, upper limb kinematics and gait. Background: Loss of cerebellar brain inhibition (CBI) in ataxia leads…3′ UTR variations may alter the mRNA expression in spinocerebellar ataxia type-2.
Objective: 1. To study the miRNA binding site variations by direct sequencing of 3’ UTR of ATXN-2gene.2. To check the mRNA expression by using qRT-PCR…Cortical Correlates of Gait in Pre-Manifest And Early Spinocerebellar Ataxia
Objective: We investigated whether prefrontal cortex activity is increased during walking in pre-manifest and early spinocerebellar ataxia (SCA) compared to healthy controls. Background: Spinocerebellar ataxia…Leading Therapeutic Molecules Target Transcription Factors Binding to Repressor Region in FXN Gene
Objective: To investigate interactions of transcription factors (TFs) binding to repressor region located upstream to FXN gene with leading therapeutic molecules. Background: Low levels of…Metabolic profile in the brain with Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
Objective: We analyzed changes in the concentration of primary metabolites in post-mortem brain samples from FXTAS cases. We also investigated how these changes relate to…Diagnostic algorithm in recessive and sporadic early-onset ataxias
Objective: To develop a diagnostic algorithm that allows to differentiate recessive or sporadic ataxias by the clinical phenotype, biochemical markers and neuroimaging studies of the…Clinical presentation of coexistence of Spinocerebellar ataxia (SCA14) gene duplication variant in association with Spinocerebellar Ataxia (SCA8) gene mutation in a same patient.
Objective: First case report to demonstrate an overlap of two autosomal dominant ataxia's (SCA8 and SCA14) in same patient expanding the clinical spectrum of spinocerebellar…Immune-Mediated and Mercury Intoxication Ataxias: Anti-GAD Antibodies and Dynamic Stabilometriс Assessment
Objective: The goals of our study were evaluation of disequilibrium, static and dynamic functions and anti-GAD antibodies concentrations in immune mediated and mercury intoxication ataxias…Role of Uric Acid in Friedreich Ataxia neurodegeneration
Objective: Friedreich Ataxia (FRDA) is an inherited recessive disease with reduced frataxin levels. This causes a reduced mitochondrial function and progressive neurodegeneration. The aim of…Progressive Ataxia with Palatal Tremor in a Metal Worker with Possible Osmotic Demyelination
Objective: We present the case of a 40 year old male alcoholic metal worker with 3 years of progressive ataxia of gait and palatal tremor. …
Abstracts from the International Congress of Parkinson’s and Movement Disorders.