A neuronal model of PARK20 (SYNJ1 mutation) using patient derived iPSCs
Objective: The SYNJ1 homozygous mutation (p.Arg258Gln) leads to juvenile Parkinsonism (PARK20). SYNJ1 plays an important role in synaptic vesicle cycling, and regulating autophagic flux. We…Glucocerebrosidase mutations in neurodegenerative disorders other than Parkinson’s disease
Objective: To determinate the frequencies of lysosomal glucocerebrosidase (GBA) common mutations in a large sample of neurodegenerative diseases including Alzheimer Disease (AD), Lewy Body Dementia (LBD), Amyotrophic…Parkinson’s disease GWAS risk loci and symptom progression
Objective: To assess whether GWAS identified Parkinson’s disease (PD) risk loci also influence symptom progression among patients. Background: Genetic factors have a considerable influence on…Predictors of onset of psychosis in Parkinson’s disease: “Who gets it early?”
Objective: To explore the factors which may predict the onset of psychosis in Parkinson’s disease (PD). Background: Non-motor symptoms (NMS) are commonly observed in PD.…Delusional Misidentification Syndrome for “Self” in two patients with Parkinson`s Disease.
Objective: We report two patients with Parkinson’s disease(PD) and Capgras syndrome (CS) with confusion of identify not just of close acquaintances but also of “self”.…Mirror Movements in extrapiramidal diseases
Objective: To analyze the presence of mirror movements (MM) in different extrapiramidal diseases. Background: MM are involuntary movements that appear during voluntary activity in contralateral…Fatigue in Functional Motor Disorders.
Objective: To investigate fatigue severity and the nature of fatigue in functional motor disorders (FMD). Secondarily, to determine the relationship between fatigue, quality of life,…A Comparison of Muscular Atrophy Between Botulinum Toxin Types A and B
Objective: To compare and quantify the degree of muscular atrophy (MA) in botulinum toxin (BT) type A (Botox) and type B (Myobloc). A secondary endpoint…Effect of Personal Characteristics on Semiology of the First Tic Episode in Children with Tourette Syndrome
Objective: to determine the correlation between personal characteristics and semiology of the first tic episode in children with Tourette syndrome. Background: there is a lack…Motor and Body Composition Variables by Parkinson’s Disease Staging
Objective: Knowing the motor variables involved in the relationship of body composition and staging of disease. Background: Functional limitation, defined as a restriction in the…
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