Giuseppe Borghero
A5083680637- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- Prion Diseases and Protein Misfolding
- Cholinesterase and Neurodegenerative Diseases
- Genetic Neurodegenerative Diseases
- Restless Legs Syndrome Research
- Endoplasmic Reticulum Stress and Disease
- Functional Brain Connectivity Studies
- Neurological disorders and treatments
- Bipolar Disorder and Treatment
- Spinal Cord Injury Research
- Parkinson's Disease and Spinal Disorders
- Takotsubo Cardiomyopathy and Associated Phenomena
- Glycogen Storage Diseases and Myoclonus
- Dermatological and Skeletal Disorders
- Pharmacological Effects and Toxicity Studies
- Healthcare Decision-Making and Restraints
- biodegradable polymer synthesis and properties
- Coenzyme Q10 studies and effects
- Diet and metabolism studies
- Intracerebral and Subarachnoid Hemorrhage Research
- RNA regulation and disease
Azienda Ospedaliero-Universitaria Cagliari
2011-2025
University of Cagliari
2013-2023
UK Dementia Research Institute
2017
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino
2013
University of Turin
2010
We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with large proportion cases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).We screened 4448 patients diagnosed ALS (El Escorial criteria) 1425 FTD (Lund-Manchester from 17 regions worldwide for GGGGCC using repeat-primed PCR assay. assessed familial disease status on basis self-reported family history similar neurodegenerative diseases at time sample...
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...
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...
A neuroprotective effect of lithium in amyotrophic lateral sclerosis (ALS) has been recently reported. We performed a multicenter trial with carbonate to assess its tolerability, safety, and efficacy patients ALS, comparing 2 different target blood levels (0.4-0.8 mEq/L, therapeutic group [TG], vs 0.2-0.4 subtherapeutic [STG]).The study was multicenter, single-blind, randomized, dose-finding trial, conducted from May 2008 November 2009 21 Italian ALS centers. The registered the public...
Strong evidence suggests that endoplasmic reticulum stress plays a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS) through altered regulation proteostasis. Robust preclinical findings demonstrated guanabenz selectively inhibits stress-induced eIF2α-phosphatase, allowing misfolded protein clearance, reduces neuronal death and prolongs survival vitro vivo models. However, its safety efficacy patients with ALS are unknown. To address these issues, we conducted...
<h3>Background</h3> In the isolated population of Sardinia, a Mediterranean island, ∼25% ALS cases carry either p.A382T mutation <i>TARDBP</i> gene or <i>GGGGCC</i> hexanucleotide repeat expansion in first intron C9ORF72 gene. <h3>Objective</h3> To describe co-presence two genetic mutations Sardinian patients. <h3>Methods</h3> We identified index carrying both missense and <i>C9ORF72</i> <h3>Results</h3> The case Family A had bulbar frontemporal dementia (FTD) at 43. His father, who carried...
<h3>Background</h3> TAR DNA-binding protein 43, encoded by the<i>TARDBP</i>gene, has been identified as the major pathological of frontotemporal lobar dementia (FTLD) with or without amyotrophic lateral sclerosis (ALS) and sporadic ALS. Subsequently, mutations in the<i>TARDBP</i>gene have detected 2% to 3% patients ALS (both familial ALS). However, our knowledge, there is only 1 description 2 FTLD and<i>TARDBP</i>gene who later developed motor neuron disease. <h3>Objective</h3> To describe...
VGF peptides, such as NERPs (neuroendocrine regulatory peptides 1 and 2), are derived from amino acids 282-306 313-350, respectively, of the human proVGF, which is produced in spinal cord motor neurons. Although certain VGF-derived changed ALS, less known about NERPs. Possible modulations additional (NAPP TPGH) were investigated using specific antibodies through competitive ELISA plasma ALS patients (at both initial advanced phases; n = 46 each vs. controls). As controls, naïve PD also...
Takotsubo syndrome (TTS) is usually triggered by either physical/psychological stressors or comorbidities, neurological among others. The prevalence of amyotrophic lateral sclerosis (ALS) TTS and whether it has a worse clinical course not known. We aim to describe ALS its impact on presentation, course, long-term mortality. retrospectively screened the overall population admitted followed up at our institution between 2007 2020. Clinical, electrocardiographic, echocardiographic data were...
Objective To assess sleep characteristics and the occurrence of abnormal muscle activity during sleep, such as REM without atonia (RSWA), behavior disorder (RBD), periodic leg movements (PLMS), in patients with amyotrophic lateral sclerosis (ALS). Methods A total 41 ALS 26 healthy subjects were submitted to clinical interview overnight video-polysomnography. Results 22 (53.6%) reported poor quality. Polysomnographic studies showed that had reduced time, increased wakefulness after onset,...