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…Detection of specific antigens in immune-mediated cerebellar ataxias
Objective: We aimed to clarify biomarkers and pathogenic autoantibodies in cerebellar ataxia, especially multiple system atrophy (MSA) and immune-mediated cerebellar ataxias (IMCAs), by detection of…Japanese cases of Sez6l2 autoimmunity
Objective: We aimed to establish a method for measuring anti-Sez6l2 antibody and to clarify how many patients with anti-Sez6l2 antibody-associated cerebellar ataxia (CA) exist in…Aberrant Volume-wise and Voxel-wise Concordance among Dynamic Intrinsic Brain Activity Indices in Parkinson’s Disease
Objective: We sought to explore the concordance between the dynamics of different rs-fMRI regional indices in order to better understand intrinsic brain activity (IBA) alterations and…Tullio phenomenon in CANVAS Syndrome
Objective: To describe Tullio phenomenon in a patient with CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome). Background: CANVAS is a progressive ataxia syndrome…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.