Pathophysiologic insights into ataxia and spasticity through structural imaging of a spinocerebellar ataxia type 7 (SCA7) cohort
Objective: Correlate clinical measures of ataxia and spasticity in a SCA7 cohort with the pattern and severity of atrophy of grey matter (GM) and white…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…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)…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…Ataxic gait in subjects with essential tremor and thalamic neurostimulation is caused by posteromedial current spread in the (sub)thalamic area
Objective: We aimed to disentangle a putative role of bilateral thalamic DBS in developing gait-ataxia in subjects with ET. Background: In ET patients with DBS,…Modelling spinocerebellar ataxia 15 with iPS cell derived neurons
Objective: Here we set out to study the cellular pathology of ITPR1-deletions underlying SCA15 in a human model of iPSC-derived cortical neurons. Background: Spinocerebellar Ataxia…
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