A5049815051- Parkinson's Disease Mechanisms and Treatments
- Acute Ischemic Stroke Management
- Neurological disorders and treatments
- Gut microbiota and health
- Nuclear Structure and Function
- Olfactory and Sensory Function Studies
- Intracerebral and Subarachnoid Hemorrhage Research
- Biochemical Analysis and Sensing Techniques
- Dysphagia Assessment and Management
- Cerebrovascular and Carotid Artery Diseases
- Botulinum Toxin and Related Neurological Disorders
- Neurological Disorders and Treatments
- Traumatic Brain Injury and Neurovascular Disturbances
- Heart Rate Variability and Autonomic Control
- RNA Research and Splicing
- Restless Legs Syndrome Research
- Yersinia bacterium, plague, ectoparasites research
- Ginkgo biloba and Cashew Applications
- RNA regulation and disease
- Multisensory perception and integration
- Genetics and Neurodevelopmental Disorders
- Cerebrospinal fluid and hydrocephalus
- EEG and Brain-Computer Interfaces
- Neurological and metabolic disorders
- Venous Thromboembolism Diagnosis and Management
Azienda Ospedaliera G. Brotzu
2019-2023
University of Cagliari
2011-2020
Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda
2015-2019
Parkinson's disease is a neurodegenerative disorder characterized by the accumulation of intracellular aggregates misfolded alpha-synuclein along cerebral axis. Several studies report association between intestinal dysbiosis and disease, although cause-effect relationship remains to be established. Herein, gut microbiota composition 64 Italian patients with 51 controls was determined using next-generation sequencing approach. A real metagenomics shape based on gas chromatography-mass...
Parkinson’s disease (PD) is a clinically heterogenic disorder characterized by distinct clinical entities. Most studies on motor deficits dichotomize PD into tremor dominant (TD) or non-tremor (non-TD) with akinetic-rigid features (AR). Different pathophysiological mechanisms may affect the onset of manifestations. Recent have suggested that gut microbes be involved in pathogenesis. The aim this study was to investigate microbiota and metabolome composition patients relation TD non-TD...
Abnormal deposition of α-synuclein is a key feature and biomarker Parkinson's disease. α-Synuclein aggregates can propagate themselves by prion-like seeding-based mechanism within between tissues are hypothesized to move the intestine brain. RT-QuIC seed amplification assays have detected Parkinson's-associated in multiple biospecimens including post-mortem colon samples. Here we show intra vitam detection seeds duodenum biopsies from 22/23 patients, but not 6 healthy controls RT-QuICR. In...
Patients with a partial reduction of merosin due to mutations in the laminin-α2 chain gene usually present mild form congenital muscular dystrophy or limb-girdle-like dystrophy. To our knowledge, cardiac impairment has never been reported such patients. A longitudinal study patient deficiency secondary LAMA2 revealed dilated cardiomyopathy ventricular arrhythmias. Is this chance association novel phenotype?
The high morbidity and mortality rates of COVID-19 have led many countries to impose a lockdown as an extreme measure prevent contagion. Accordingly, concerns were raised about the worsening symptoms in patients with Parkinson's disease (PD)1-3 well for their caregivers' mental health. We hypothesized that different PD features may impact on patients' stress under lockdown. To this aim, we prospectively carried out series structured telephone interviews each pair (PD/caregivers) conducted by...
Deficits in olfaction are among the most frequent non-motor symptoms Parkinson's disease (PD) and can be detected early compared with motor symptoms. The reason for onset, as well mechanism involved remains unknown. We aimed to characterize olfactory performance of patients PD age-matched healthy control (HC) participants association gender a specific polymorphism odorant-binding protein IIa (OBPIIa) gene, which plays crucial role perception odors. was assessed using odor identification part...
Abstract Background and purpose Recent data suggest that imbalances in the composition of gut microbiota (GM) could exacerbate progression Parkinson disease (PD). The effects levodopa (LD) have been poorly assessed, those LD‐carbidopa intestinal gel (LCIG) not evaluated so far. aim this study was to identify effect LD LCIG, particular, on GM metabolome. Methods Fecal DNA samples from 107 patients with a clinical diagnosis PD were analyzed by next‐generation sequencing V3 V4 regions 16S rRNA...
LMNA gene mutations are associated with cardiac and skeletal muscle alterations.A cohort of 21 mutated individuals was assessed clinical instrumental investigations over the years.The median observation period 6 years. Cardiac compromise detected in 16 patients. Bradyarrhythmias were most frequent manifestations, followed by supraventricular arrhythmias. Two suffered from nonsustained 1 sustained ventricular tachyarrhythmias. Dilated cardiomyopathy 3 Evaluation frequencies expressions showed...
Abstract Ischaemic stroke is accompanied by important alterations of cardiac autonomic control, which have an impact on outcome. In sleep, control oscillates with a predominant sympathetic modulation during REM sleep. We aimed to assess in different sleep stages patients ischaemic stroke. Forty‐five enrolled the prospective, multicentre SAS‐CARE study but without significant sleep‐disordered breathing (apnea–hypopnea index < 15/hr) and atrial fibrillation were included this analysis. The...
Abstract KMT2B-related dystonia (DYT-KMT2B, also known as DYT28) is an autosomal dominant neurological disorder characterized by varying combinations of generalized dystonia, psychomotor developmental delay, mild-to-moderate intellectual disability and short stature. Disease onset occurs typically before 10 years age. We report the clinical genetic findings a series subjects affected adult-onset hearing loss or carrying rare heterozygous KMT2B variants. Twelve cases from five unrelated...
Abstract Objectives Levodopa–Carbidopa Intrajejunal gel (LCIG) infusion is an effective intervention for people with advanced Parkinson’s disease (PD). Although age may not be a limiting factor LCIG implant, no data are available on late elderly PD (LE-PD) subjects. In this cross-sectional, we aimed to demonstrate if older impact quality of life (QoL), motor and non-motor symptoms severity, profile side effects in treated LCIG. Methods Out 512 subjects at 9 Italian centers, selected 25 LE-PD...
View Supplementary Video 1