Motor speech and swallowing phenotype of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To provide a comprehensive quantitative and qualitative characterization of speech and swallowing function in ARSACS to support diagnostics, provide insights into the underlying pathology,…Cerebrotendinous Xanthomatosis: A Rare Lipid Storage Disease
Objective: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease. It is caused by the deficiency of mitochondrial enzyme sterol 27-hydroxylase due to…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).…Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients
Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…Fast paced gait may be more discriminating than dual tasking for detecting severity of gait and turn deficits in FXTAS
Objective: Determine the impact of dual task (DT) cognitive interference and fast paced walking on gait and the relationship between cognition, gait and falls in…Usefulness of Sway Area for Assessing Balance and Stability in People with Sporadic Adult Onset Cerebellar Ataxia
Objective: To assess usefulness of sway area using wearable devices by (1) comparison of variables with another neurodegenerative diseases (2) assessing correlation with the Scale…Cerebello-spinal stimulation in neurodegenerative ataxia: A randomized, double-blind, sham-controlled, crossover trial
Objective: The present study investigated whether a two-weeks' treatment with cerebellar anodal and spinal cathodal transcranial direct current stimulation (tDCS) could reduce symptoms in patients…Cerebellar Ataxia case series study from southern Spain: Clinical and molecular description
Objective: Describe clinical features of a Cerebellar Ataxia non-Friedreich case series from southern Spain, and their molecular diagnosis. Background: Cerebellar Ataxias are a highly heterogeneous…A strategic approach to understand microsatellite repeat loci among Indian spinocerebellar ataxia patients
Objective: To identify novel unstable tandem nucleotide repeat loci in uncharacterized ataxia patients. Background: Microsatellites like tandem nucleotide repeats are of importance to human genome…Genotype-phenotype correlations in 104 Uzbekish families with Spinocerebellar ataxias
Objective: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.