A5088555774- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Botulinum Toxin and Related Neurological Disorders
- Genetic Neurodegenerative Diseases
- Transcranial Magnetic Stimulation Studies
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Parkinson's Disease and Spinal Disorders
- Glycogen Storage Diseases and Myoclonus
- Neuroscience and Neuropharmacology Research
- Lysosomal Storage Disorders Research
- Obsessive-Compulsive Spectrum Disorders
- Cholinesterase and Neurodegenerative Diseases
- Pelvic floor disorders treatments
- Neurological and metabolic disorders
- Alzheimer's disease research and treatments
- Psychosomatic Disorders and Their Treatments
- Long-Term Effects of COVID-19
- Nuclear Receptors and Signaling
- Mitochondrial Function and Pathology
- Autism Spectrum Disorder Research
- Anorectal Disease Treatments and Outcomes
- Amyotrophic Lateral Sclerosis Research
- Sympathectomy and Hyperhidrosis Treatments
- Nerve Injury and Rehabilitation
Università Cattolica del Sacro Cuore
2016-2025
IRCCS Humanitas Research Hospital
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2011-2025
Humanitas University
2016-2024
Fondazione Humanitas per la Ricerca
2010-2024
John Wiley & Sons (United States)
2014-2024
Catholic University of America
1999-2022
ERN-RND
2022
John Wiley & Sons (United Kingdom)
2021
New York University Press
2021
Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia nigra. We previously mapped locus for rare familial form PD to chromosome 1p36 (PARK6). Here we show that mutations PINK1 (PTEN-induced kinase 1) are associated with PARK6. have identified two homozygous affecting domain three consanguineous PARK6 families: truncating nonsense mutation and missense at highly conserved amino acid. Cell culture studies suggest...
Cholinergic deficits are prominent in patients who have dementia associated with Parkinson's disease. We investigated the effects of dual cholinesterase inhibitor rivastigmine such patients.
Deep brain stimulation (DBS) is associated with significant improvement of motor complications in patients severe Parkinson's disease after some 6–12 months treatment. Long-term results a large number have been reported only from single study centre. We report 69 treated bilateral DBS the subthalamic nucleus (STN, n = 49) or globus pallidus internus (GPi, 20) included multicentre study. Patients were assessed preoperatively and at 1 year 3–4 years surgery. The primary outcome measure was...
Abstract We have recently reported homozygous mutations in the PINK1 gene three consanguineous families with early‐onset parkinsonism (EOP) linked to PARK6 locus. To further evaluate pathogenic role of EOP and draw genotype–phenotype correlates, we performed mutation analysis a cohort Italian patients, mostly sporadic, onset younger than 50 years age. Seven 100 patients carried missense PINK1. Two had two mutations, whereas five only one was identified. Age at fourth‐fifth decade (range,...
BackgroundMultiple system atrophy (MSA) is a fatal and still poorly understood degenerative movement disorder that characterised by autonomic failure, cerebellar ataxia, parkinsonism in various combinations. Here we present the final analysis of prospective multicentre study European MSA Study Group to investigate natural history MSA.MethodsPatients with clinical diagnosis were recruited followed up clinically for 2 years. Vital status was ascertained years after completion. Disease...
Abstract The present study measured the normal blink rate (BR) variations in relation to behavioral tasks 150 healthy volunteers (70 males and 80 females; aged 35.9 ± 17.9 years, range 5–87 years). subjects were videotaped a standard setting while performing three different tasks: resting quietly, reading short passage, talking freely. mean BR was computed during each task; data compared by means of analysis variance Student's t tests. Mean at rest 17 blinks/min, conversation it increased...
Abstract We report the 5 to 6 year follow‐up of a multicenter study bilateral subthalamic nucleus (STN) and globus pallidus internus (GPi) deep brain stimulation (DBS) in advanced Parkinson's disease (PD) patients. Thirty‐five STN patients 16 GPi were assessed at years after DBS surgery. Primary outcome measure was effect on motor Unified Disease Rating Scale (UPDRS) with prospective cross‐over double‐blind assessment without medications (stimulation randomly switched or off). Secondary...
<b><i>Objective:</i></b> To reduce antiparkinsonian medication in parkinsonian patients with bilateral high frequency subthalamic nucleus (STN) stimulation. <b><i>Background:</i></b> Parkinsonian syndromes are characterized by hyperactivity of the STN. Preliminary data indicate that functional inactivation STN may requirement for dopaminergic therapy PD. <b><i>Methods:</i></b> Bilateral quadripolar leads were implanted stereotactically seven advanced PD (mean age, 57.4 years; mean disease...
Deep brain stimulation (DBS) of the subthalamic nucleus (STN) or internal segment globus pallidus (GPi) improves Parkinson's disease and increases frontal blood flow. We assessed effects bilateral DBS on executive function in patients, seven with electrodes implanted STN six GPi. Patients were off medication stimulators off, again. The groups showed differential change Reitan Trail-Making test (TMT B) (STN more improved) some measures random number generation Wisconsin Card Sorting improved,...
to provide a revised version of earlier guidelines published in 2006.primary dystonias are chronic and often disabling conditions with widespread spectrum mainly young people.primary classified as pure dystonia, dystonia plus or paroxysmal syndromes. Assessment should be performed using validated rating scale for dystonia. Genetic testing may after establishing the clinical diagnosis. DYT1 is recommended patients primary limb onset before age 30, those an affected relative early-onset DYT6...
Deep brain stimulation of the subthalamic nucleus represents most important innovation for treatment advanced Parkinson’s disease. Prospective studies have shown that although beneficial effects this procedure are maintained at 5 years, axial motor features and cognitive decline may occur in long term after implants. In order to address some unsolved questions raised by previous studies, we evaluated a series 20 consecutive patients who received continuous 8 years. The overall improvement...
Background and purpose Tauroursodeoxycholic acid ( TUDCA ) is a hydrophilic bile that produced in the liver used for treatment of chronic cholestatic diseases. Experimental studies suggest may have cytoprotective anti‐apoptotic action, with potential neuroprotective activity. A proof principle approach was adopted to provide preliminary data regarding efficacy tolerability series patients amyotrophic lateral sclerosis ALS ). Methods As principle, using double‐blind placebo controlled design,...
Lateral internal sphincterotomy, the most common treatment for chronic anal fissure, may cause permanent injury to sphincter, which can lead fecal incontinence. We compared two nonsurgical treatments that avert risk of randomly assigned 50 adults with symptomatic posterior fissures receive either a total 20 U botulinum toxin injected into sphincter on each side anterior midline or 0.2 percent nitroglycerin ointment applied twice daily six weeks.