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…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 comparative study on the alterations in the cortical excitability and central motor conduction time in spinocerebellar ataxias 1, 2, 3 and 12
Objective: This study evaluates and compares the RMT and CMCT in patients with genetically proven SCA1, SCA2, SCA3 and SCA12 using transcranial magnetic stimulation (TMS).…MicroRNAs Unveil Metabolic Imbalance in Spinocerebellar Ataxia Type-2
Objective: To correlate differentially expressed non-coding microRNA of peripheral blood mononuclear cells (PBMCs) with SCA2 pathogenesis. Background: Spinocerebellar ataxia aype-2 (SCA2), the most common SCA…Transcriptional profiling of peripheral blood monocytes from child Friedreich’s ataxia patient: New molecules and patterns of gene expression
Objective: To explore peripheral biomarkers related to Friedreich's ataxia and identification of pathophysiological insights of complex phenotype Background: Friedreich's ataxia(FRDA) causes nervous system damage and…Pathophysiologic insights into ataxia and spasticity through structural imaging of a spinocerebellar ataxia type 7 (SCA7) cohort
Objective: Correlate clinical measures of ataxia and spasticity in a SCA7 cohort with the pattern and severity of atrophy of grey matter (GM) and white…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.