A5063552454- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Genetic Neurodegenerative Diseases
- Nuclear Receptors and Signaling
- Neurological diseases and metabolism
- Cerebral Palsy and Movement Disorders
- Restless Legs Syndrome Research
- Lysosomal Storage Disorders Research
- RNA regulation and disease
- Autism Spectrum Disorder Research
- Botulinum Toxin and Related Neurological Disorders
- Child Nutrition and Feeding Issues
- Dysphagia Assessment and Management
- Transcranial Magnetic Stimulation Studies
- Balance, Gait, and Falls Prevention
- Parkinson's Disease and Spinal Disorders
- Nutrition and Health in Aging
- Nerve injury and regeneration
- Neuroscience and Neuropharmacology Research
- Alzheimer's disease research and treatments
- Ginkgo biloba and Cashew Applications
- Gambling Behavior and Treatments
- Neurological and metabolic disorders
- Obsessive-Compulsive Spectrum Disorders
- Creativity in Education and Neuroscience
Istituto Ortopedico Gaetano Pini
2016-2025
Grigioni Foundation for Parkinson's disease
2017-2025
Inserm
2022-2024
Centre de recherche en Epidémiologie et Santé des Populations
2022-2024
Université de Versailles Saint-Quentin-en-Yvelines
2022-2024
Université Paris-Saclay
2022-2024
Center for Human Genetics
2024
Hertie Institute for Clinical Brain Research
2022
Oslo University Hospital
2022
University of Tübingen
2022
Ergot-derived dopamine receptor agonists, often used in the treatment of Parkinson's disease, have been associated with an increased risk valvular heart disease.
The objective of this work was to investigate survival, dementia, and genotype-phenotype correlations in patients with Parkinson's disease (PD) without mutations on the glucocerebrosidase gene (GBA).We included 2,764 unrelated consecutive PD patients: 123 GBA carriers (67 mild-p.N370S 56 severe mainly p.L444P) 2,641 noncarriers. Brain perfusion dopamine transporter imaging analyzed, including dementia Lewy Bodies (DLB) as an additional control group.Multivariable analysis adjusted by sex,...
Our objective was to evaluate the efficacy of probiotics and prebiotics in patients with Parkinson disease (PD) constipation.We conducted a tertiary setting, randomized, double-blind, placebo-controlled trial PD Rome III-confirmed constipation based on 2-week stool diary data at baseline. Patients (n = 120) were randomly assigned (2:1) either fermented milk, containing multiple probiotic strains prebiotic fiber, or placebo, once daily for 4 weeks. The primary endpoint increase number...
Although several studies have suggested that abnormalities in gut microbiota may play a critical role the pathogenesis of PD, data are still extremely heterogeneous.16S gene ribosomal RNA sequencing was performed on fecal samples 350 individuals, subdivided into idiopathic PD (n = 193, whom 39 were drug naïve) stratified by disease duration, PSP 22), MSA and healthy controls (HC; n 113). Several confounders taken account, including dietary habits.Despite fact unadjusted comparison HC showed...
Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features manifesting LRRK2 mutation carriers generally indistinguishable from those patients with sporadic PD. However, some PD cases associated mutations lack Lewy bodies (LBs), a neuropathological hallmark We investigated whether presence or absence LBs correlates different LRRK2-related PD.We describe genetic, clinical, and findings 37 including 33...
During the past decade, a number of large drug trials suggested that initiation levodopa therapy should be delayed to reduce risk motor complications in patients with Parkinson’s disease. However, relative contribution cumulative exposure and disease progression pathophysiology fluctuations dyskinesias is still poorly understood. In this 4-year multicentre study, we investigated cohort sub-Saharan African country (Ghana), where access medication limited often occurs many years after onset....
It is unknown whether patients with PD are at greater risk of COVID-19, what their factors are, and clinical manifestations differ from the general population.
Abstract Despite substantial progress, causal variants are identified only for a minority of familial Parkinson’s disease (PD) cases, leaving high-risk pathogenic unidentified 1,2 . To identify such variants, we uniformly processed exome sequencing data 2,184 index PD cases and 69,775 controls. Exome-wide analyses converged on RAB32 as novel gene identifying c.213C > G/p.S71R variant presenting in ~0.7% while observed 0.004% controls (odds ratio 65.5). This was confirmed all via Sanger...
To investigate the potential of magnetic resonance imaging for identification and quantification brain iron in healthy subjects, patients with Parkinson disease, multiple system atrophy.Forty-nine subjects were studied at 1.5 T. Regional T1 T2 values compared among groups also histopathologic estimates concentration.In interregional differences cortex basal ganglia showed a good correlation reported concentration, intraregional variations generally consistent variability concentration....
Abstract We assessed prospectively clinical and quality of life changes in 9 patients with Parkinson's disease (PD; H&Y ≥ 3) severe motor fluctuations dyskinesia who started continuous daily levodopa duodenal infusion through percutaneous endoscopic gastrostomy. Seven completed the follow‐up period. Duration “off” periods time disabling shortened significantly all ( P < 0.01). Total dose infused did not differ from baseline equivalents. There were significant improvements UPDRS‐II...
<b>Background:</b> Mutations in the gene <i>Leucine-Rich Repeat Kinase 2</i> (<i>LRRK2</i>) were recently identified as cause of PARK8 linked autosomal dominant Parkinson's disease. <b>Objective:</b> To study recurrent <i>LRRK2</i> mutations a large sample patients from Italy, including early (<50 years) and late onset familial sporadic <b>Results:</b> Among 629 probands, 13 (2.1%) heterozygous carriers G2019S mutation. The mutation frequency was higher among (5.1%, 9/177) than probands...
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations result severe reduction of synthesis cells and are most common cause DOPA-responsive dystonia, a rare disease that classically presents childhood with generalized dystonia dramatic long-lasting response to levodopa. We describe clinical, genetic dopaminergic imaging ([123I]N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl) tropane single photon...
Abstract Two small studies reported suboptimal therapy adherence in Parkinson's disease. We conducted a larger multicenter European study to assess medicine‐taking behavior. disease patients taking dopaminergic were enrolled 8 centers 5 countries, and severity demographics recorded. Antiparkinson drug was measured for 4 weeks using electronic monitoring bottles which record the date time of cap opening (Aardex®, Switzerland). One hundred twelve patients, mean age 65 years (standard deviation...
Parkinson's disease (PD) is a progressive neurodegenerative disorder in which the major pathologic substrate loss of dopaminergic neurons from substantia nigra. Our main objective was to determine correspondence between changes nigra, evident neuromelanin and iron sensitive magnetic resonance imaging (MRI), striatal innervation patients with PD. Eighteen 18 healthy control subjects were included study. Using neuromelanin-MRI, we measured volume nigra contrast-to-noise-ratio background...
Background. Although physical exercise improves motor aspects of Parkinson’s disease (PD), it is not clear whether may also have a neuroprotective effect. Objective. In this 2-year follow-up study, we determined intensive in the early stages slows down PD progression. Methods. Forty newly diagnosed patients with were treated rasagiline and randomly assigned to 2 groups: MIRT Group (two 28-day multidisciplinary rehabilitation treatments [MIRT], at 1-year interval) Control (only drug). both...
Abnormal repetitive behaviors have been reported in Parkinson's disease (PD) during dopamine replacement therapy (DRT) and associated with individual predisposing features, including impulsivity. However, impulsivity compulsive symptoms never explored PD patients before initiation of DRT. We previously a 20% impulse control disorders (ICD) an Italian cohort.103 consecutive newly diagnosed drug-naïve (means: age = 60.5 ± 9.2 years; duration 15.4 15.3 months) were screened for sexual behavior,...