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. …Cerebellar bioenergetic depletion following ubiquinol supplementation in a patient with COQ8A-related ataxia
Objective: To non-invasively map the individual treatment response in a patient with COQ8A-related ataxia following coenzyme Q10 supplementation. Background: Primary coenzyme Q10 (CoQ10) deficiency is…Characterization of ataxia in Sjogren’s syndrome
Objective: This study aimed to characterize the pattern of ataxia in Sjogren’s syndrome and also to describe cerebellar ataxia and cerebellar atrophy in some of…A recessive repeat expansion causes CANVAS and is a common cause of Late-Onset Ataxia
Objective: To identify and characterize the genetic cause of common, idiopathic, cerebellar ataxia. Background: Late-onset ataxia is a common reason for neurological consultation, but its…Non-CpG methylation in the FXN gene in patients with Friedreich’s ataxia
Objective: To compare methylation profiles of non-CpG sites in the FXNgene in patients with Friedreich’s ataxia (FA), their heterozygous relatives and a healthy control group. Background: FA is…Opsoclonus and ataxia in the setting of synchronous primary malignancies
Objective: To present a rare case of opsoclonus with positive anti-Ri (ANNA-2) autoantibodies, secondary to synchronous multiple primary tumors. Background: Opsoclonus refers to involuntary, conjugate, saccadic…A comparison of relative displacement by double integration with root mean square in the quantitative evaluation of gait ataxia by triaxial accelerometers
Objective: An appropriate biomarker for spinocerebellar degeneration (SCD) is needed. Background: Previously we reported that the average amplitude of medial-lateral of straight gait gained by…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.