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…Video-oculography assessment in neurodegenerative ataxias and Neimann Pick Type C
Objective: To assess the role of video-oculography (VOG) in the differential diagnosis of neurodegenerative ataxias and NP-C by evaluating saccadic velocity and smooth pursuit gain…Ataxia-Teleangiectasia-Mutated-Knock-Out mouse cerebellum shows significant reduction of calcium homeostasis factors
Objective: We aimed to identify sensitive and specific molecular markers of the cerebellar Purkinje neuron loss in Ataxia Teleangiectasia. Background: Ataxia teleangiectasia is an autosomal…Investigating the Lipidomic Signature of Spinocerebellar Ataxia (SCA1) Using A Liquid-Microjunction Surface Sampling Probe
Objective: Lipidomic analysis of mice with spinocerebellar ataxia by mass spectrometry. Background: Ataxia is a movement disorder affecting balance and coordination of limbs, gait, eyes…Blink reflex recovery cycle in patients with genetically determined ataxias
Objective: To investigate the R2 blink reflex recovery cycle (BRRC) in genetically determined ataxias such as spinocerebellar ataxia (SCA), ataxia telangiectasia (AT) and Friedreich"s ataxia…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.