Audiological Evaluation in Sporadic Ataxia
Objective: to describe the audiological and electrophysiological results in patients with sporadic ataxia (SA). Background: Patients with adult onset non-familial progressive ataxia are classified in…Neurotological Findings in Sporadic Ataxia
Objective: To examine vestibular disorders in patients with sporadic ataxia (SA). Background: Ataxias are a heterogeneous group of neurodegenerative diseases characterized by the presence of…Effect of Virtual Reality on Balance Rehabilitation
Objective: To verify the effect of a balance rehabilitation program with virtual reality (VR) in patients with SCA Background: Spinocerebellar ataxias (SCAs) constitute a group…Wearable gait sensors to measure degenerative cerebellar ataxia
Objective: We aimed to correlate a bed-side ataxia measure with wearable gait sensors parameters in cerebellar ataxia patients. Background: Limited attention has been paid to…Comparison of the effect of thalamic DBS/coagulation on tremor and thalamic neuronal activity in spinocerebellar ataxia and essential tremor
Objective: To investigate the effects of deep brain stimulation (DBS) or lesions of the ventral intermediate nucleus (Vim) of the thalamus for spinocerebellar ataxia (SCA)…SPG7 related spastic ataxia differs according to the presence of the A510V variant
Objective: To characterize phenotype-genotype correlation in patients with two SPG7 variants, supported by a post mortem study. Background: The SPG7 gene was the first identified…Induced pluripotent stem cells based in-vitro modelling of Spinocerebellar Ataxia type -12 (SCA-12).
Objective: To derive neuronal lineages from patient’s peripheral blood mononuclear cells (PBMCs) and exploration of disease biology. Background: Spinocerebellar ataxia type-12 (SCA-12) is a progressive cerebellar…A comparative study between OCT in SCA3 and 10
Objective: To describe OCT findings in spinocerebellar ataxia (SCA) type 10, correlate it with expansion size and disease severity and compare with those of SCA3…Quantitative evaluation of gait ataxia by triaxial accelerometers is more sensitive than SARA within 1.5 years.
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…Antisense FMR1 splice variant and loss of AGG interruptions are predictors of Fragile X-associated tremor/ataxia syndrome (FXTAS)
Objective: To evaluate the role of splice patterns of the antisense FMR1 (ASFMR) gene in Fragile X-associated tremor/ataxia syndrome (FXTAS) Background: FXTAS is an inherited…
