The applicability of the Scale for Assessment and Rating of Ataxia (SARA) in toddlers
Objective: In healthy toddlers (2-4 years of age), we aimed to evaluate: 1. the feasibility of SARA performances and 2. the reliability of SARA sub-score…Spinocerebellar ataxias in Southern Brazil: genotypic and phenotypic evaluation of 213 families
Objective: To describe and correlate the genotype and phenotype of patients diagnosed with SCAs. Background: Spinocerebellar Ataxias (SCAs) are neurodegenerative diseases with autosomal dominant inheritance…Quantitative evaluation of gait ataxia of Multiple System Atrophy patients
Objective: To perform gait analysis on patients with multiple system atrophy (MSA) and assess whether the obtained data could be used as neurophysiological biomarkers. Background:…Need of next generation sequencing technology to de-convolute autosomal recessive cerebellar ataxias in India
Objective: Comparison of two next generation platform to screen ARCA patients in Indian population Background: India is deficient with the molecular screening of the ARCAs.…Genotype-Phenotype correlations of Episodic Ataxia (EA). MDSGene Systematic Review
Objective: To systematically review genotype-phenotype correlations for the four known genes causing EA. Background: EA is a group of heterogeneous disorders characterized by recurrent attacks…Spinocerebellar degeneration in Minami-Boso area of Japan – A hospital-based retrospective analysis
Objective: Elucidate the present status of clinical practice for spinocerebellar degeneration (SCD) in Minami-Boso area to plan future direction for managing this intractable condition. Background:…A Robust and Rapid Method of PCR amplification To Confirm Triplet Repeat Disorders: Single-Step Blood Direct PCR
Objective: To develop a rapid, robust and more reliable method for an expeditious genetic investigation of patients with TRDs.to develop a rapid, robust and more…Paraneoplastic Cerebellar Degeneration As Initial Symptom Of Renal Cell Carcinoma
Objective: To describe a case of paraneoplastic cerebellar degeneration in a patient with renal cell carcinoma. Background: Paraneoplastic cerebellar degeneration belongs to a group of…Clinico-genetic correlation in 102 Spinocerebellar Ataxia Type 12 (SCA 12) patients
Objective: To report the phenotype among the largest number of genotypically confirmed SCA 12 patients. Background: SCA12 is an autosomal dominant cerebellar ataxia (ADCA) caused…Classification of spinocerebellar degeneration based on ratio of brainstem white matter to cerebellar gray matter by voxel-based morphometry
Objective: We examined the usefulness of voxel-based morphometry (VBM) analysis in auxiliary diagnosis of cases with spinocerebellar degeneration, including those with MSA-C. Background: In Japan,…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.