Changes detected in swallowing function in Friedreich ataxia over 12 months
Objective: To determine if changes in swallowing function are detectable over 12 months in Friedreich ataxia Background: Dysphagia (swallowing impairment) is present in 98% of…FXN and ATXN2 methylation profile in Friedreich’s ataxia and spinocerebellar ataxia type 2
Objective: To compare methylation profiles in frataxin (FXN) and ataxin-2 (ATXN2) genes in patients with spinocerebellar ataxia type 2 (SCA2), Friedreich’s ataxia (FA) and a…CASPR2 antibody mediated autoimmune encephalitis presenting with profound chorea
Objective: Describing a rare case of CASPR2 medicated auto immune encephalitis presenting with profound chroea Background: This is a 69 year old retired engineer who…Factors predicting patient satisfaction with botulinum toxin treatment in cervical dystonia patients who have been treated for a year
Objective: Investigate factors influencing satisfaction with botulinum toxin-A (BoNT-A) treatment in patients with cervical dystonia (CD) who have been treated for 1 year. Background: Little…Handwriting analysis in Writer’s cramp using a digitizing tablet
Objective: Kinematic analysis of Archimedean spiral drawing in Writer’s cramp (WC) patients compared to healthy participants using a digitizing tablet. Background: Spiral drawing using a…Phenomenology and management of subthalamic stimulation-induced dyskinesia in a video case series of patients with isolated dystonia
Objective: To document with videotaped observations, 3 patients with isolated dystonia who experienced stimulation-induced dyskinesia (SID) following subthalamic nucleus (STN) deep brain stimulation (DBS). Background:…Unique task specific oromandibular dystonia associated with Quran recitation
Objective: To describe clinical features of oromandibular dystonia induced by Quran recitation. Background: Task specific focal dystonias occurring exclusively during highly skilled motor tasks have…Decreased blood beta-Glucosidase activity and GBA mutations in Dystonia
Objective: To report on the observation of decreased levels of GCase in peripheral blood in patients presenting with dystonia without signs of parkinsonism. Background: Glucocerebrosidase…Striatum of the ouabain-induced pharmacological DYT12 mouse model is affected by structural and metabolic abnormalities
Objective: To study changes in neuronal morphology and neurotransmitter metabolism in the striatum of a pharmacological DYT12 mouse model after induction of a dystonic phenotype…Parkinson’s Disease Risk in Breast Cancer
Objective: Case report of two patients who developed symptoms of Parkinson’s disease after treatment with chemotherapy and radiation for breast cancer and to review the…
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