Compound heterozygous PANK2 variants in two unrelated kindreds with atypical PKAN
Objective: To describe two unrelated individuals with progressive, late-onset Pantothenate kinase-associated neurodegeneration (PKAN) and a common missense variant in the PANK2 gene Background: Neurodegeneration with Brain-Iron Accumulation…Changes in gait and mobility measures collected in daily living conditions, in different stages of Parkinson’s disease
Objective: To explore mobility measures collected in daily-living conditions in different stages of PD. Background: Gait and mobility impairments are considered a cardinal sign in…Clinicopathologic features of primary lateral sclerosis with TDP-43 presenting as atypical parkinsonism
Objective: To clarify clinicopathologic features of pathologically-confirmed primary lateral sclerosis (PLS). Background: PLS is a neurodegenerative disorder characterized by slowly progressive upper motor neuron signs…Non-motor symptom characteristics in patients with essential tremor
Objective: The objective of this study was to evaluate non-motor symptoms in essential tremor (ET) and compare those to healthy controls (HCs). Background: ET is…Exploratory analysis of the effect of delayed-start prasinezumab on motor sign progression measured with the Roche PD Mobile Application v2: PASADENA Phase II Parts 1 and 2
Objective: To determine whether the positive effects of prasinezumab on motor progression measured by Roche PD Mobile Application (PASADENA study Part 1; 0-52 weeks; NCT03100149)…Surgical outcomes in Rare Movement Disorders: A report of seventeen patients from India
Objective: To study the outcome of functional neurosurgery among patients with Rare movement disorders (RMDs). Background: RMDs throw remarkable challenges to their appropriate management particularly…Non-motor symptoms in de-novo adult-onset focal dystonia
Objective: To assess the prevalence of non-motor symptoms in untreated de-novo patients with cervical dystonia and blepharospasm. Background: Adult-onset focal dystonia is a movement disorder…Meta-optimization to select stimulation settings for deep brain stimulation in Parkinson’s disease
Objective: The objective is to develop an algorithmic approach for selecting deep brain stimulation (DBS) settings for Parkinson’s disease (PD) and other movement disorders more…Reversible chorea due to bilateral basal ganglia lesion in diabetic uremic patient
Objective: To report diabetic patient with chronic renal failure who developed sudden chorea movements associated with reversible bilateral basal ganglia lesion. Background: Acute movement disorder…Design of a prodromal screening study for subtypes in Parkinson’s Disease
Objective: To follow-up prodromal Parkinson’s Disease (PD) subtypes in a longitudinal cohort study, validating new biomarkers and ethical guidelines for early detection of PD. Background:…
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