Perception of the visual vertical is not impaired in patients with idiopathic cervical dystonia
Objective: To investigate whether the perception of the visual vertical is intact in patients with idiopathic Cervical Dystonia (CD). Background: Idiopathic CD is a focal…DYT16/PRKRA founder mutation causes childhood-onset generalized dystonia in a family from southern Italy
Objective: To describe a family with three siblings affected by the combination of dystonia and parkinsonism, as a resulting phenotype of recessive PRKRA mutation. Background:…Incidence of dystonia in patients with progressive supranuclear palsy
Objective: To study the frequency of dystonic symptoms in progressive supranuclear palsy (PSP). Background: Progressive supranuclear palsy (PSP) is an uncommon brain disorder that affects…The writer’s cramp and its connections with sensory deficits
Objective: To determine whether difficulties in motor or perceptive anticipation are present in writer's cramp and are specific to writing or also observed during other…Neck proprioception is impaired in patients with idiopathic cervical dystonia
Objective: To investigate whether proprioceptive information generated from the neck is impaired in patients with idiopathic Cervical Dystonia (CD). Background: CD is a focal dystonia…Cervical dystonia and quality of life
Objective: To evaluate appearance of depression and anxiety in patiens with cervical dystonia and influence of dystonia symptoms on the quality of life. Background: Cervical…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…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…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…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,…