Sisters with a novel compound heterozygous mutation in GCH1 gene linked to dopa responsive dystonia
Objective: Objective: Two sisters with a diagnosis of dopa-responsive dystonia (DRD) with a new mutation are reported. Background: Background: GTP cyclohydrolase I (GCH1) mutations are…Protein aggregation and calcium dysregulation are the earliest hallmarks of synucleinopathy in enriched iPSC-derived human midbrain dopaminergic neurons
Objective: Develop and adapt a differentiation paradigm to produce enriched hiPSC-derived midbrain dopaminergic neurons (mDA), to resolve the temporal sequence of pathophysiological events in synucleinopathies.…A second level neuropsychological battery for Parkinson’s Disease. Normative data from the Italian population.
Objective: The main purpose of this work is to propose modern Italian co-normed data for a battery of ten widely used neuropsychological tests for Parkinsons’…Cholinergic Innervation and Cognitive Functioning in De Novo Parkinson’s Patients with GBA Variations
Objective: To explore the regional cholinergic innervation and clinical characteristics of de novo Parkinson’s disease (PD) patients carrying GBA variants. Background: The most common genetic…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…Apomorphine Sublingual Film for OFF Episodes in Parkinson’s Disease: Incremental Motor Improvement Observed with Increasing Doses
Objective: Evaluate magnitude of motor improvement with increasing doses of apomorphine sublingual film (SL-APO) in patients with Parkinson’s disease (PD) and OFF episodes. Background: Identifying…Intermuscular coherence as a biomarker of subthalamic nucleus deep brain stimulation efficacy in Parkinson’s disease
Objective: Deep brain stimulation of the subthalamic nucleus (STN-DBS) is an established treatment in advanced Parkinson’s disease (PD). However, the clinical outcome after STN-DBS is…Effects of a novel neurotrophic compound in an animal model of Parkinson’s disease
Objective: Investigate the neuroprotective effect of a novel compound in an animal model of Parkinson’s disease. Background: Cerebral dopamine neurotrophic factor (CDNF) and mesencephalic astrocyte-derived…Liraglutide once daily versus placebo in Parkinson’s disease: a randomized, double-blind, placebo-controlled trial
Objective: To test safety and efficacy of the glucagon-like peptide 1 (GLP-1) agonist liraglutide in idiopathic Parkinson’s disease (PD). Background: Insulin resistance (IR) may play…Prepulse inhibition of the blink reflex in functional movement disorders
Objective: To assess the influence of directed attention on prepulse inhibition (PPI) of the blink reflex in patients with functional movement disorders (FMD) and healthy…
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