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…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…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 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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.