A5060491124- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- EEG and Brain-Computer Interfaces
- Alzheimer's disease research and treatments
- Prion Diseases and Protein Misfolding
- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Systemic Sclerosis and Related Diseases
- RNA Research and Splicing
- Amino Acid Enzymes and Metabolism
- Traumatic Brain Injury Research
- Neuroscience and Neural Engineering
- Healthcare Decision-Making and Restraints
- Neuroscience and Neuropharmacology Research
- RNA modifications and cancer
- Restless Legs Syndrome Research
- Multiple Sclerosis Research Studies
- Cholinesterase and Neurodegenerative Diseases
- Neuroinflammation and Neurodegeneration Mechanisms
- Cerebrospinal fluid and hydrocephalus
- Dysphagia Assessment and Management
- Spinal Cord Injury Research
- Dermatological and Skeletal Disorders
University of Palermo
2016-2025
Tecnologie Avanzate (Italy)
2006-2020
University of Palermo
2008-2018
Baden-Wuerttemberg Cooperative State University
2016
King Abdulaziz University
2014
Hospital Universitario de Burgos
2014
Balıkesir University
2014
Bülent Ecevit University
2014
Ankara Atatürk Eğitim ve Araştırma Hastanesi
2014
Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda
2013
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,...
Objective To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods Linkage disequilibrium score regression Mendelian randomization were applied a large‐scale, data‐driven manner to explore genetic correlations relationships between >700 phenotypic traits ALS. Exposures consisted of publicly available genome‐wide association studies (GWASes) summary statistics from MR Base LD‐hub . The outcome data came the recently published ALS GWAS...
Abstract The factors contributing to selective motoneuron loss in amyotrophic lateral sclerosis (ALS) remain undefined. To investigate whether calcium‐binding proteins contribute vulnerability ALS, we compared calbindin‐D 28K and parvalbumin immunoreactivity populations human a ventral spinal cord hybrid cell line selectively vulnerable the cytotoxic effects of ALS IgG. In autopsy specimens, immunoreactive were absent lost early (i.e., cortical motoneurons, lower cranial nerve motoneurons),...
A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ∼40% familial amyotrophic lateral sclerosis cases European ancestry. The aim current article was describe phenotype carrying by providing detailed clinical description affected from representative multi-generational kindreds, and analysing age onset, gender ratio survival cohort patients with sclerosis. We collected DNA analysed...
DJ-1 gene mutations have been found to cause early-onset Parkinson's disease. We report a family from southern Italy with three brothers affected by parkinsonism, dementia, and amyotrophic lateral sclerosis. Molecular analysis of the in two living patients showed novel homozygous mutation exon 7 (E163K) new (g.168_185dup) promoter region gene. Both cosegregated disease were detected heterozygous state patients' mother their healthy siblings. Our findings expand spectrum clinical...
Mutations in the FUS gene cause amyotrophic lateral sclerosis (ALS-FUS). Mutant is known to confer cytoplasmic gain of function but its effects nucleus are less understood. an essential component paraspeckles, subnuclear bodies assembled on a lncRNA NEAT1. Paraspeckles may play protective role specifically degenerating spinal motor neurons. However it still unknown how endogenous levels mutant would affect NEAT1/paraspeckles. Using novel cell lines with modified by CRISPR/Cas9 and human...
Many patients with locked-in syndrome (LIS) or complete (CLIS) also need brain-computer interface (BCI) platforms that do not rely on visual stimuli and are easy to use. We investigate command following communication functions of mindBEAGLE 9 LIS, 3 CLIS three healthy controls. This tests were done vibro-tactile stimulation 2 stimulators (VT2 VT3 mode) motor imagery (MI) paradigms. In VT2 the fixed left right wrist participant has task count target hand in order elicit a P300 response. mode...
Locked-in Amyotrophic Lateral Sclerosis (ALS) patients are fully dependent on caregivers for any daily need. At this stage, basic communication and environmental control may not be possible even with commonly used augmentative alternative devices. Brain Computer Interface (BCI) technology allows users to modulate brain activity of machines devices, without requiring a motor control. In the last several years, numerous articles have described how persons ALS could effectively use BCIs...
Amyotrophic lateral sclerosis (ALS) is a multifactorial neurodegenerative disease characterised by the loss of upper and lower motor neurons. Increasing evidence indicates that neuroinflammation mediated microglia contributes to ALS pathogenesis. This microglial activation evident in post-mortem brain tissues neuroimaging data from patients with ALS. However, role pathogenesis progression amyotrophic remains unclear, partly due lack model system able faithfully recapitulate clinical...
To identify factors associated with tolerance and survival after noninvasive positive-pressure ventilation (NIPPV) to investigate the influence of NIPPV on lung function in patients ALS.NIPPV was offered 71 ALS accordance currently published guidelines. Effects influencing were studied.Forty-four (61.9%; 95% CI: 50.6 73.2) tolerated (NIPPV use >or=4 h/day) 27 (38.1%; 26.8 49.4) intolerant <4 h/day). Patients mild or moderate bulbar symptoms more likely tolerate than those severe impairment...
The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility motor neuron degeneration. To identify variants altering risk ALS, we undertook two-stage genome-wide association study (GWAS): followed our initial GWAS 545 066 SNPs 553 individuals with ALS and 2338 controls by testing the 7600 most associated from first stage three independent cohorts consisting 2160 cases 3008 controls....
To determine the causes and place of death in a cohort Italian patients with amyotrophic lateral sclerosis (ALS). A better understanding likely ALS might improve palliative care at end-of-life, whereas knowing will help to verify need for highly specialized services, e.g. hospice nursing home.Between 2000 2008, 182 (onset: spinal, 127; bulbar, 55; M/F: 1.6) were followed single Tertiary Centre Palermo, Sicily, Italy until death. Medical data each individual patient recorded large database...
Objective To explore the effectiveness of communication and variables affecting eye-tracking computer system (ETCS) utilization in patients with late-stage amyotrophic lateral sclerosis (ALS). Methods We performed a telephone survey on 30 advanced non-demented ALS that were provisioned an ECTS device. Median age at interview was 55 years (IQR = 48–62), relatively high education (13 years, IQR 8–13). A one-off made answers later provided help caregiver. The included items about demographic...
To evaluate the frequency, severity and determinants of sleep disturbances in patients with amyotrophic lateral sclerosis (ALS).Information about night-time complaints was collected using a standardised questionnaire, Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS) group 100 ALS control subjects matched for age sex. Functional disability assessed Rating Scale-Revised (ALSFRS-R). studied by overnight polysomnography 12 patients.Fifty-nine 36 controls reported...
Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). This work was undertaken with aim to investigate frequency of ataxin-1 (ATXN-1) and ATXN-2 PolyQ cohort patients sporadic ALS (sALS) familial (fALS) from southern Italy.We assessed lengths ATXN-1 405 sALS, 13 fALS, 296 unrelated controls without history neurodegenerative disorders.We found significantly higher intermediate...
Our objective was to assess the effects of acetyl-L-carnitine (ALC) with riluzole on disability and mortality amyotrophic lateral sclerosis (ALS). Definite/probable ALS patients, 40−70 years age, duration 6−24 months, self-sufficient (i.e. able swallow, cut food/handle utensils, walk), forced vital capacity (FVC) > 80% entered a pilot double-blind, placebo-controlled, parallel group trial were followed for 48 weeks. ALC or placebo 3 g/day added 100 mg/day. Primary endpoint: number patients...