- NMDA Receptor Antibodies and Neuropsychiatric Symptoms in Parkinson’s DiseaseObjective: To quantify the frequency of NMDA receptor (NMDAR) antibodies (Abs) in Parkinson’s disease (PD) and characterise their relationship with the cognitive and neuropsychiatric symptoms.…
- Falls in Parkinson’s Disease: The Impact of Cognitive PerformanceObjective: This study aimed to assess the incidence of falls in a population of PD patients and their clinical performance on cognitive assessment scales. Background:…
- GP2: training the next generation of Parkinson’s disease genetics researchers – wherever they are in the worldObjective: To establish a virtual ‘center of excellence’ with resources and expertise to serve the training needs of the Global Parkinson’s Genetics Program (GP2; www.gp2.org)…
- Familial Parkinson’s disease (PD) with anticipation phenomenon. Undescribed variant in the LRRK2 gene (c.4001G> A (p.Arg1334Gln))Objective: We describe a family with 4 members affected by PD, carrying a new variant of the LRRK2 gen, with anticipation phenomenon in succeding generation.…
- Genotype-phenotype relations for GBA as a Parkinson’s disease risk factor gene: MDSGene Systematic ReviewObjective: To provide a comprehensive and systematic review of genotype-phenotype associations of GBA variants for Parkinson’s disease (PD). Background: Biallelic pathogenic variants in the glucocerebrosidase gene (GBA) cause Gaucher disease (GD).…
- Impaired glucocerebrosidase transport to lysosomes in cultured macrophages derived from blood monocytic cells of patients with Parkinson’s disease associated with mutations in the GBA geneObjective: To study the glucocerebrosidase (GCase) activity and translocation to lysosomes in cultured macrophages derived from patient blood monocytic cells (PBMC) of Parkinson's disease patients…
- Substantia nigra pars compacta integrity is associated with DRT-related motor symptom improvement in Parkinson’s diseaseObjective: To study the correlation between substantia nigra white matter integrity and response of motor symptoms to dopamine replacement therapy (DRT) in Parkinson’s disease (PD).…
- Compensatory functional mechanisms of response inhibition in Parkinson’s Disease with impulse control disordersObjective: To investigate response inhibition in Parkinson’s disease (PD) patients with impulse control disorders. Specifically, the neural underpinnings of two aspects of inhibition: proactive inhibition…
- Clinical correlates of Parkinson’s disease metabolic pattern: not only a diagnostic toolObjective: To define and cross-validate the glucose metabolism abnormalities related to Parkinson's Disease (PD), and to analyze pattern relationship with clinical phenotype Background: In PD,…
- Progression of nigrostriatal dysfunction in Parkinson’s disease: a longitudinal multimodal PET studyObjective: To investigate the longitudinal course of nigrostriatal metabolic and dopaminergic dysfunction and its impact on symptom severity in Parkinson's disease (PD) patients using a…
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