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…Distinguishing pseudo-dystonia from dystonia: A case series
Objective: To characterize various presentations of pseudo-dystonia and features that distinguish it from dystonia based on review of 12 video cases and the published literature.…Phenomenology of idiopathic adult-onset truncal dystonia
Objective: Characterize the phenomenology and natural history of adult onset idiopathic truncal dystonia. Background: Focal dystonias are the most common type of adult-onset dystonia, however,…Negative dystonia of the palate: Mutation in the THAP1 (DYT6) gene found in a 42 years old patient
Objective: To highlight that the new clinical entity called "negative dystonia of the palate" recently described is probably more a new clinical presentation of a…Deep brain stimulation in three patients with dystonia and severe cerebellar atrophy
Objective: To describe the outcome of Deep Brain Stimulation (DBS) in patients with dystonia and prominent cerebellar atrophy. Background: There is increasing evidence supporting the…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.