Luca Gentile
A5017321766- Amyloidosis: Diagnosis, Treatment, Outcomes
- Hereditary Neurological Disorders
- Peripheral Neuropathies and Disorders
- Peripheral Nerve Disorders
- Dermatological and Skeletal Disorders
- Eosinophilic Disorders and Syndromes
- Peptidase Inhibition and Analysis
- Protein Kinase Regulation and GTPase Signaling
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genetic Neurodegenerative Diseases
- Exercise and Physiological Responses
- Parathyroid Disorders and Treatments
- Cardiomyopathy and Myosin Studies
- Botulinum Toxin and Related Neurological Disorders
- Cellular transport and secretion
- Myasthenia Gravis and Thymoma
- IgG4-Related and Inflammatory Diseases
- Physical Activity and Health
- Neurological diseases and metabolism
- Ocular and Laser Science Research
- Cardiovascular Effects of Exercise
- Cancer Treatment and Pharmacology
- Astronomical Observations and Instrumentation
- Caveolin-1 and cellular processes
- Head and Neck Anomalies
University of Messina
2015-2025
Fondazione Poliambulanza Istituto Ospedaliero
2018-2024
University of Naples Federico II
2022-2023
Ceinge Biotecnologie Avanzate (Italy)
2019-2021
Azienda Ospedaliera Universitaria Policlinico "G. Martino"
2012-2021
Don Carlo Gnocchi Foundation
2018
Università Cattolica del Sacro Cuore
2018
Martin University
2013
Center for Neurosciences
2012
University of Bari Aldo Moro
2010
Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt transthyretin amyloid fibrils in various tissues and organs.Established 2007, Amyloidosis Outcomes Survey (THAOS) largest ongoing, global, longitudinal, observational study patients with ATTR amyloidosis, including both hereditary disease, asymptomatic carriers pathogenic TTR mutations. This analysis describes baseline...
Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait.Val30Met mutation accounts for the majority of patients with large endemic foci especially in Portugal, Sweden and Japan.However, more than one hundred other mutations have been described worldwide.A great phenotypic variability among late-and early-onset has reported.Objective: To present detailed report TTR-FAP diagnosed our tertiary...
Introduction ATTRv amyloidosis is worldwide spread with endemic foci in Portugal and Sweden, Japan, Brazil, Maiorca, Cyprus. A national Registry was developed to characterise the epidemiology genotype-phenotype correlation of Italy allow a better planning diagnostic therapeutic services.Methods Fifteen Italian referral centres for all over country have contributed Registry.Results Four-hundred-forty-seven subjects were enrolled, 187 asymptomatic carriers 260 affected patients. Thirty-one...
Abstract Background and purpose Hereditary transthyretin amyloidosis (ATTRv) is a life‐threatening disease caused by mutations in the gene encoding ( TTR ). The recent therapeutic advances have underlined importance of easily accessible, objective biomarkers both onset progression. Preliminary evidence suggests potential role this respect for neurofilament light chain (NfL). In study, aim was to determine serum NfL (sNfL) levels late‐onset ATTRv population evaluate whether it might represent...
Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multi-systemic disease with wild-type (ATTRwt) and hereditary (ATTRv) forms. Over 130 variants associated ATTRv have been identified, although little known about the majority of these genotypes. This analysis examined phenotypic characteristics symptomatic patients enrolled in Amyloidosis Outcomes Survey (THAOS) four less frequently reported pathogenic genotypes: F64L (c.250T>C, p.F84L), I68L (c.262A>T, p.I88L), I107V...
Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality disease. The aim present study was explore with nerve ultrasound (US) possible red flags early diagnosis in ATTRv patients carpal tunnel syndrome (CTS) and/or polyneuropathy and pre-symptomatic carriers.Patients carriers a TTR gene mutation were enrolled from seven Italian centers. Severity CTS assessed neurophysiology clinical evaluation. Median...
Abstract Background Hereditary transthyretin amyloidosis (hATTR/ATTRv) results from the deposition of misfolded (TTR) throughout body, including peripheral nerves. Inotersen, an antisense oligonucleotide inhibitor hepatic TTR production, demonstrated a favorable efficacy and safety profile in patients with polyneuropathy associated hATTR NEURO-TTR (NCT01737398) study. We report longer-term data for inotersen, median treatment exposure 3 years. Methods Patients who satisfactorily completed...
Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is an adult-onset multisystemic disease, affecting the peripheral nerves, heart, gastrointestinal tract, eyes, and kidneys. Nowadays, several treatment options are available; thus, avoiding misdiagnosis crucial to starting therapy in early disease stages. However, clinical diagnosis may be difficult, as present unspecific symptoms signs. We hypothesize that diagnostic process benefit from use of machine learning (ML).397...
This study aimed to assess the diagnostic criteria, ancillary investigations and treatment response using real-life data in multifocal motor neuropathy (MMN) patients.
Hereditary amyloid transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, inherited, multisystemic, progressive adult-onset disease, affecting sensorimotor nerves, and various organs. It caused by mutations in the TTR gene, leading to misfolded monomers that aggregate, forming fibrils. Patisiran small, double-stranded interfering RNA encapsulated lipid nanoparticle, designed enter hepatocytes selectively target mRNA reduce both variant wild-type (wt). This study presents...
Pathological evidence of amyloid on nerve biopsy has been the gold standard for diagnosis in hereditary transthyretin amyloidosis polyneuropathy (hATTR-PN) a long time. In this article, we reviewed pathological findings large series sural biopsies from cohort hATTR-PN patients, collected by different Italian referral centers. Patients and Methods: We clinical data diagnosed followed five centers peripheral neuropathies. Diagnosis was formulated after positive genetic test (TTR) mutations....
There is no agreement on the gold standard for detection and grading of chemotherapy-induced peripheral neurotoxicity (CIPN) in clinical trials. The objective to perform an observational prospective study assess compare patient-based physician-based methods CIPN.Consecutive patients, aged 18 years or older, candidates neurotoxic chemotherapy, were enrolled United States, European Union, Australia. A trained investigator performed scales (Total Neuropathy Score-clinical [TNSc], used calculate...
Abstract: Hereditary transthyretin amyloidosis (ATTRv) is a multisystemic, rare, inherited, progressive and adult-onset disease, affecting the sensorimotor nerves, heart, autonomic function other organs. The actual scenario of pharmaceutical approaches for ATTRv includes five main groups: TTR stabilizers, mRNA silencers, fibril disruptors, inhibitor seeding gene therapy. Patisiran small, double-stranded interfering RNA encapsulated in lipid nanoparticle, able to penetrate into hepatocytes,...
Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a dominantly inherited, adult-onset, progressive, and fatal disease caused by mutations in the gene. Therapeutic agents approved for this include TTR stabilizer tafamidis gene-silencing drugs patisiran inotersen. Inotersen an antisense oligonucleotide that suppresses hepatic production of transthyretin. After European Medical Agency approval 2018, early-access program was opened Italy, article, we present long-term outcome cohort Italian...
Objectives To compare the sensitivity and specificity of 2021 European Academy Neurology/Peripheral Nerve Society (EAN/PNS) diagnostic criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with those 2010 Federation Neurological Societies/Peripheral (EFNS/PNS). Methods Sensitivity two sets were evaluated in 330 patients CIDP 166 axonal peripheral neuropathy controls. Comparison utility nerve conduction studies different number nerves examined typical its variants...
Abstract Missing aspects of the heritability chronic neuropathic pain, as a complex adult-onset trait, may be hidden within rare variants with low effect on disease risk, unlikely to resolved by single-variant approach. To identify new risk genes, we performed next-generation sequencing 107 pain genes and collapsed through gene-wise aggregation analysis. The optimal unified sequence kernel association test was applied 169 patients painful neuropathy, 223 nociplastic (82 diagnosed widespread...
Transthyretin-related familial amyloidotic polyneuropathy (TTR-FAP) usually presents itself as a progressive sensorimotor with severe autonomic dysfunction and cardiomyopathy. Eighteen patients carrying the Leu64 mutation underwent series of regular follow-ups, including: neurological examination, electroneurography, electromyography, electrocardiography echocardiography, blood analysis, questionnaire on symptoms, cardiovascular tests 99mTc-DPD examination study. A late onset slowly disease...
To determine the prevalence of different comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and their impact on outcome, treatment choice response.Using a structured questionnaire, we collected information from 393 patients with CIDP fulfilling European Federation Neurological Societies Peripheral Nerve Society criteria included Italian database.One or more were reported by 294 (75%) potentially influenced 192 (49%) leading to less frequent use...
Background: Over the past decade, three new drugs have been approved for treatment of hereditary amyloid transthyretin (ATTRv) polyneuropathy. The aim this work was to analyze whether current therapies prolong survival patients affected by ATTRv amyloidosis. Methods: study conducted retrospectively, analyzing medical records 105 with genetic diagnoses familial amyloidotic polyneuropathy followed at two referral centers disease in Sicily, Italy. Of these, 71 received disease-modifying...