A5086957329- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Alzheimer's disease research and treatments
- Genetic Neurodegenerative Diseases
- Acute Ischemic Stroke Management
- Cerebrovascular and Carotid Artery Diseases
- Restless Legs Syndrome Research
- Glycogen Storage Diseases and Myoclonus
- Dementia and Cognitive Impairment Research
- Lysosomal Storage Disorders Research
- Advanced Neuroimaging Techniques and Applications
- Advanced MRI Techniques and Applications
- Peroxisome Proliferator-Activated Receptors
- Thermal Regulation in Medicine
- Mitochondrial Function and Pathology
- Autism Spectrum Disorder Research
- Pharmacological Effects and Toxicity Studies
- Trigeminal Neuralgia and Treatments
- Epilepsy research and treatment
- Traumatic Brain Injury and Neurovascular Disturbances
- Cellular transport and secretion
- Migraine and Headache Studies
- Nuclear Receptors and Signaling
- Stroke Rehabilitation and Recovery
University of Perugia
2014-2024
Ospedale Santa Maria
2007-2024
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2021
Azienda Ospedaliera di Perugia
2011-2020
China Rehabilitation Research Center
2019
Istituto Neurologico Mediterraneo
2017
In-Q-Tel
2016
Fondazione Santa Lucia
2009-2014
Ospedale Sant'Anna
2010
Istituto Giannina Gaslini
2010
ABSTRACT To assess the discriminating power of multiple cerebrospinal fluid (CSF) biomarkers for Parkinson's disease (PD), we measured several proteins playing an important role in pathogenesis. The activities β‐glucocerebrosidase and other lysosomal enzymes, together with total oligomeric α‐synuclein, phosphorylated tau, were thus assessed CSF 71 PD patients compared to 45 neurological controls. Activities β‐glucocerebrosidase, β‐mannosidase, β‐hexosaminidase, β‐galactosidase established...
Abstract Although alpha‐synuclein is the main constituent of Lewy bodies, cerebrospinal fluid determination on its own does not seem fundamental for diagnosis synucleinopathies. We evaluated whether combination classical biomarkers, Aβ 1–42 , total tau, phosphorylated and α‐synuclein can improve discrimination Parkinson's disease, dementia with Alzheimer's frontotemporal dementia. were measured in a series patients disease (n = 38), bodies 32), 48), 31), age‐matched control other...
Reduced β-glucocerebrosidase activity was observed in postmortem brains of both GBA1 mutation carrier and noncarrier Parkinson's disease patients, suggesting that lower is a key feature the pathogenesis PD. The objectives this study were to confirm whether there reduced CSF PD patients verify if other lysosomal enzymes show altered CSF.CSF β-glucocerebrosidase, cathepsin D, β-hexosaminidase activities measured 79 61 healthy controls from BioFIND cohort. whole gene sequenced.Enzyme normalized...
There is a great interest in developing cerebrospinal fluid (CSF) biomarkers for diagnosis and prognosis of Parkinson's disease (PD). CSF alpha synuclein (α-syn) species, namely total oligomeric α-syn (t-α-syn o-α-syn), have shown to be help PD diagnosis. Preliminary evidences show that the combination t-α-syn classical Alzheimer's (AD) biomarkers-β-amyloid 1-42 (Aβ42), tau (t-tau), phosphorylated (p-tau)-differentiate patients from controls, reduced levels Aβ42 represent predictive factor...
Neurodegenerative disorders such as Alzheimer's disease (AD), Parkinson's with dementia (PDD), and Lewy bodies (DLB) share clinical molecular features. Cerebrospinal fluid (CSF) biomarkers may help the characterization of these diseases, improving differential diagnosis. We evaluated diagnostic performance five CSF across a well-characterized cohort patients diagnosed AD, DLB, PDD, (PD). A total 208 were enrolled in 3 European centers. The groups (AD, n = 48; 40; 20; PD, 54) compared...
Anti-IgLON5 disease is a recently described neurologic that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent important but have not been characterized are underreported. We describe the frequency types movement disorders in series consecutive patients with this disease.In retrospective, observational study, presence phenomenology were assessed standardized clinical questionnaire. Available videos centrally reviewed by 3 experts...
Anti-IgLON5 disease is a rare and likely underdiagnosed subtype of autoimmune encephalitis. The displays heterogeneous phenotype that includes sleep, movement bulbar-associated dysfunction. presence IgLON5-antibodies in CSF/serum, together with strong association HLA-DRB1*10:01∼DQB1*05:01, supports an basis. In this study, multicentric human leukocyte antigen (HLA) study 87 anti-IgLON5 patients revealed stronger HLA-DQ than HLA-DR. Specifically, we identified predisposing rank-wise...
Abstract Levodopa-induced dyskinesias (LID) negatively impact on the quality of life patients with Parkinson’s disease (PD). We assessed risk factors for LID in a cohort de-novo PD enrolled Progression Markers Initiative (PPMI). This retrospective study included all PPMI cohort. Main outcome was incidence rate dyskinesia, defined as first time patient reported non-zero score item “Time spent dyskinesia” MDS-UPDRS part IV. Predictive value development clinical and demographical features,...
Caring for a person with Parkinson's disease (PD) is associated an increased risk of psychiatric morbidity and persistent distress. The objective this study was to describe the burden related factors caregivers advanced PD (APD) patients either treated continuous dopaminergic delivery systems or standard therapy. This cross-sectional, epidemiologic conducted in 13 Italian sites enrolled delivering [either levodopa/carbidopa intestinal gel (LCIG) infusion subcutaneous apomorphine (CSAI)]...
Pathophysiological substrate(s) and progression of Parkinson's disease (PD) with mild cognitive impairment (PD-MCI) are still matter debate. Baseline cerebrospinal fluid (CSF) neurochemical profile changes after 2 years were investigated in a retrospective series PD-MCI (n = 48), cognitively normal PD (PD-CN, n 40), prodromal Alzheimer's (MCI-AD, 25) healthy individuals other neurological diseases (OND, 44). CSF biomarkers reflecting amyloidosis (Aβ42/40 ratio, sAPPα, sAPPβ), tauopathy...
Background: We investigated the effectiveness and safety of mirabegron oral treatment in a group patients with Parkinson’s disease (PD) overactive bladder (OAB), refractory to antimuscarinics. Materials methods: Thirty PD OAB were prospectively included study. At baseline, motor symptoms, severity cognitive status assessed Hoehn–Yahr Scale, Unified Rating Mini Mental State examination Montreal Cognitive Assessment. urinary satisfaction impact incontinence on quality life (QoL) 3-day voiding...
To delineate the natural history, diagnosis, and treatment response of Parkinson disease (PD) in individuals with 22q11.2 deletion syndrome (22q11.2DS), to determine if these patients differ from those idiopathic PD.In this international observational study, we characterized clinical neuroimaging features 45 22q11.2DS PD (mean follow-up 7.5 ± 4.1 years).22q11.2DS had a typical male excess (32 male, 71.1%), presentation progression hallmark motor symptoms, reduced striatal dopamine...
<h3>OBJECTIVES</h3> Little is known about factors influencing the spread of blepharospasm to other body parts. An investigation was carried out deterrmine whether demographic features (sex, age at onset), putative risk, or protective for (family history dystonia tremor, previous head face trauma with loss consciousness, ocular diseases, and cigarette smoking), related diseases (diabetes, hypertension), edentulousness, neck trunk preceding onset could distinguish patients who had from those...