A5093127061- Parkinson's Disease Mechanisms and Treatments
- Lysosomal Storage Disorders Research
- Neurological disorders and treatments
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Craniofacial Disorders and Treatments
- Carbohydrate Chemistry and Synthesis
- Epilepsy research and treatment
- Fibroblast Growth Factor Research
- Genetic Syndromes and Imprinting
- Cellular transport and secretion
- Metabolism and Genetic Disorders
- Connective tissue disorders research
- Autism Spectrum Disorder Research
- Glycosylation and Glycoproteins Research
- Congenital Diaphragmatic Hernia Studies
University of Pavia
2023-2025
McGill University
2024
Imaging Center
2024
Background GBA variants increase the risk of developing Parkinson disease (PD) and influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for advanced PD. Data on DBS long-term outcome in carriers are scarce. Objective To elucidate impact large Italian cohort. Methods We retrospectively recruited multicentric DBS-PD cohort assessed: (1) prevalence; (2) pre-DBS clinical features; (3) outcomes motor, cognitive other non-motor features up to 5 years post-DBS....
Background: There is a need for simplified classification systems capable of effectively stratifying Parkinson's disease (PD) in routine clinical practice. Objectives: Identification PD subtypes integrating neuroimaging and features, widely used to support diagnosis. Methods: We included, from Progression Markers Initiative (PPMI), 249 de novo early diagnosed patients. Two step clustering analysis was run on 123I-FP-CIT-SPECT striatal uptake [D+/D] motor impairment [M+/M]. The emerging...
Background Heterozygous mutations in the GBA gene, encoding lysosomal enzyme β-glucocerebrosidase (GCase), are most frequent genetic risk factor for Parkinson’s disease (PD). -related PD (GBA-PD) patients have higher of dementia and reduced survival than non-carriers. Preclinical studies one open-label trial humans demonstrated that chaperone ambroxol (ABX) increases GCase levels modulates α-synuclein blood cerebrospinal fluid (CSF). Methods analysis In this multicentre, double-blind,...
Abstract Background Variants in the GBA1 gene are commonest genetic risk factor for Parkinson disease (PD). Genotype-phenotype correlations exist but with conflicting data, particularly cognitive domain. Objectives Comparing clinical phenotypes a multicentre, international cohort incorporating GBA-PD and idiopathic PD (iPD) patients. Methods Patients underwent comprehensive assessment of motor non-motor functions. Two-group (GBA-PD vs iPD) multiple-group comparisons (iPD, risk, mild, severe...
To report a novel imaging finding of bilateral dentate nuclei hyperintensities in case childhood-onset GAA-
Abstract Deep brain stimulation (DBS) is an established therapeutic option for Parkinson Disease (PD), with demonstrated efficacy on motor symptoms also in patients carrying GBA1 variants (GBA-PD). However, it was recently suggested that DBS may accelerate cognitive decline this frequent genetic subgroup, raising major concerns its indication. Primary aim of study to investigate the possible additive effects genotype and implant deterioration other non-motor features long term. As secondary...