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…Targeting the intracellular localization of Ataxin-3 as novel treatment strategy for Spinocerebellar Ataxia Type 3
Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is an autosomal-dominantly inherited neurodegenerative disorder caused by a CAG expansion in the ATXN3 gene…Movement Disorders and Clinical Progression in Spinocerebellar Ataxias
Objective: To study the prevalence and influence of movement disorder signs in SCAs. Background: Movement disorders are common features in spinocerebellar ataxias (SCAs) but their…The autonomic nervous system in Friedreich´s Ataxia: preliminary findings
Objective: To investigate the autonomic function in Friedreich´s ataxia (FRDA) Background: FRDA is a hereditary neurodegenerative disorder characterized by progressive gait ataxia, limb dysmetria, dysarthria…Early diagnosis in Spinocerebellar Ataxias: Prospects for clinical alterations and ethical dilemmas during preclinical trials.
Objective: To assess the acceptation level and ethical concerns for participating in early intervention approaches in Spinocerebellar Ataxia type 2 preclinical carriers and to evaluate…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.