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…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.