A comparison of relative displacement by double integration with root mean square in the quantitative evaluation of gait ataxia by triaxial accelerometers
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…Rapidly progressive ataxia caused by an undetermined paraneoplastic disorder: A case report
Objective: To report the case of a 69-year-old woman with rapidly progressive ataxia. Background: Various cases exist in the literature of rapidly progressive ataxia secondary…Muscle Ultrasound Comparison Between Early And Intermediate Onset Friedreich’s Ataxia
Objective: Background: Early-onset Friedreich’s Ataxia (FA) concerns a classic pediatric phenotype (p-FA, starting before 18 years of age), characterized by relentlessly progressive ataxia and (cardio)myopathy.…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…TANDEM REPEATS BEYOND THE CLINICAL DIAGNOSIS IN ADCAs
Objective: To present observations on abnormal expansion in both allele in ADCAs. Background: Use of expansion in tandem repeats is restricted to only disease diagnosis…Spinocerebellar Ataxia type 11 in a Hispanic Kindred
Objective: To present the clinical profiles of two siblings with SCA11 who are of Hispanic origin. Background: Spinocerebellar ataxia type 11 (SCA11) is an autosomal…Prof. Wadia’s contributions to neurology and SCA2
Objective: To present a review of the seminal contributions of Professor Wadia to neurology, in particular the first description of SCA2. Background: Spinocerebellar ataxia type…Focused neuromodulation by short pulse width improves gait ataxia in thalamic DBS
Objective: To investigate the efficacy of selective neuromodulation to overcome stimulation-induced gait ataxia in patients with essential tremor (ET) and thalamic deep brain stimulation (DBS).…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)…The nucleocytoplasmic transport of ataxin-3 as pathogenic mechanism in spinocerebellar ataxia type 3
Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is a neurodegenerative disorder caused by a CAG expansion in the MJD1 gene leading to…