A healthy volunteer phase 1 study of RE-024, a potential phosphopantothenate replacement therapy for patients with pantothenate kinase-associated neurodegeneration (PKAN)
Objective: To assess the safety, tolerability, and pharmacokinetics of single oral doses of RE-024 in healthy adult volunteers. Background: PKAN is a rare, autosomal recessive,…Diaphragmatic dystonia in a patient that presents with Meige syndrome and disordered breathing
Objective: To present a case of diaphragmatic dystonia, discuss prevalence, and a practical approach to work up and treatment of this condition. Background: Diaphragmatic dystonia…Investigation of head tremor in cervical dystonia: Novel application of virtual reality head mounted display, the oculus rift
Objective: We aim to characterise tremulous head movements in cervical dystonia during eccentric left- and right-going head rotations. Background: Cervical dystonia is the most common…Development of hyperkinesias after long term pallidal stimulation for dystonia
Objective: Recent reports on the occurrence of bradykinetic symptoms like freezing, postural instability and micrographia after chronic DBS of the GPi in patients with dystonia…RE-024: A potential phosphopantothenate replacement therapy in 2 patients with pantothenate kinase-associated neurodegeneration (PKAN)
Objective: To evaluate the safety and potential efficacy of RE-024 in open treatment of 2 patients with PKAN. Background: PKAN is an autosomal recessive, neurodegenerative…The high prevalence of pain among patients with X linked dystonia parkinsonism
Objective: To evaluate the frequency of pain and its severity among XDP (X linked dystonia parkinsonism) patients. Background: Sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag") is…Dystonia, tremor, and dystonic tremor
Objective: To provide guidance for current debates regarding the nosology of tremor in dystonia. Background: Dystonia is defined as a disorder with sustained or intermittent…Clinical profile of patients with writer’s cramp
Objective: To present the clinical profile of 16 patients with simple writer's cramp who were treated with botulinum toxin injections. Background: Writer's cramp is the…Early retirement and loss of income among X linked dystonia parkinsonism (XDP / DYT3) patients in Capiz, Roxas City Philippines
Objective: To determine the rates of unemployment among patients with X linked dystonia parkinsonism (XDP). Background: X linked dystonia parkinsonism (XDP, DYT3, "Lubag") is a…Frequency and types of dystonia in Wilson’s disease patients
Objective: To establish the frequency and types of dystonia in our cohort of Wilson's disease patients. Background: Wilson's disease (WD) belongs to movement disorders with…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.