A5085857415- Amyloidosis: Diagnosis, Treatment, Outcomes
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Cellular transport and secretion
- Peripheral Neuropathies and Disorders
- Neurological diseases and metabolism
- Advanced Neuroimaging Techniques and Applications
- Ion channel regulation and function
- Maritime Transport Emissions and Efficiency
- Protein Kinase Regulation and GTPase Signaling
- Electric and Hybrid Vehicle Technologies
- Vehicle emissions and performance
- Dermatological and Skeletal Disorders
- Advanced Combustion Engine Technologies
- RNA Research and Splicing
- Real-time simulation and control systems
- Caveolin-1 and cellular processes
- Modeling and Simulation Systems
- Neurofibromatosis and Schwannoma Cases
- Hearing, Cochlea, Tinnitus, Genetics
- Cardiomyopathy and Myosin Studies
- Pain Mechanisms and Treatments
- Cellular Mechanics and Interactions
- Eosinophilic Disorders and Syndromes
- Sports Analytics and Performance
University of Naples Federico II
2019-2023
Federico II University Hospital
2020-2022
Vita-Salute San Raffaele University
2019
Lund University
2019
Wellcome Centre for Mitochondrial Research
2019
Newcastle University
2019
University College London
2019
Leiden University Medical Center
2019
King's College London
2019
Skåne University Hospital
2019
A growing interest in cognitive effects associated with speech and hearing processes is spreading throughout the scientific community essentially guided by evidence that central peripheral loss decline. For present research, 125 participants older than 65 years of age (105 impairment 20 normal hearing) were enrolled, divided into 6 groups according to their degree assessed determine treatment applied. Patients our research program routinely undergo an extensive audiological evaluation...
Objective To validate sphingomyelin (SM) dosage in the cerebrospinal fluid (CSF) of patients affected by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Guillain-Barré syndrome (GBS) as a reliably assessable biomarker. Methods We prospectively enrolled 184 from six Italian referral centres, whom CSF SM levels were quantified fluorescence-based assay optimised patented our laboratory. Results confirmed increased typical CIDP (n=35), atypical (n=18) acute...
Backgrounds Hereditary transthyretin amyloidosis (ATTRv) presymptomatic subjects undergo multidisciplinary evaluation to detect, as early possible, a subclinical involvement of multisystem disease. Quantitative sensory testing (QST) that investigates and discriminates the function C, Aδ Aβ fibers is included an instrumental test monitor nerve fiber function. The purpose this study was evaluate role QST in context late onset carriers. Methods Four-teen (namely carriers) were enrolled....
Central nervous system involvement has been described in peripheral neuropathies, including different forms of Charcot-Marie-Tooth (CMT) disease. Aim our study was to systematically investigate possible brain structural modifications CMT1A patients, using volumetric MRI and diffusion tensor imaging (DTI). In this prospective cross-sectional study, from May-2017 May-2019, we acquired 3T scans genetically confirmed patients age- sex-comparable healthy controls. Patients also underwent clinical...
Charcot-Marie-Tooth (CMT) diseases are a clinically and genetically heterogeneous group of disorders. Different variants in the neurofilament heavy chain (NEFH) gene have been described to cause CMT2CC subtype. Here we report first Italian patient affected by CMT2CC, harboring novel variant NEFH. In describing our patient, also reviewed previously individuals, suggested consider NEFH if patients an axonal sensory-motor neuropathy with prominent proximal muscles involvement early requirement...
Hereditary transthyretin amyloidosis (ATTRv) is a rare, debilitating and fatal disease, mostly characterized by progressive axonal peripheral neuropathy. Diagnosis still challenging diagnostic delay in non-endemic area about 3-4 years. The aim of this study was to arrange clinical electrophysiological score select patients with neuropathy that deserve screening for TTR mutation.Thirty-five ATTRv 55 chronic idiopathic polyneuropathy (CIAP) were retrospectively analyzed. Clinical findings at...
EGR2 (Early Growth Response 2) is one of the most important transcription factors involved in myelination peripheral nervous system. mutations typically cause different forms demyelinating neuropathy, that is, Charcot‐Marie‐Tooth type 1D (CMT1D), Dejerine‐Sottas Syndrome (DSS), and Congenital Hypomyelinating Neuropathy (CHN). However, gene has been recently associated with an axonal phenotype (CMT2) a large CMT family. Here, we report another family exhibiting missense change (c.1235A>G,...
Background and purpose Changes of brain structure function have been described in peripheral neuropathies. The aim our study was to systematically investigate possible modifications major large‐scale networks using resting‐state functional magnetic resonance imaging (RS‐fMRI) Charcot–Marie–Tooth disease type 1A (CMT1A) patients. Methods In this cross‐sectional study, 3‐T MRI scans were acquired right‐handed genetically confirmed CMT1A patients age‐ sex‐comparable healthy controls. Patients...
In Charcot-Marie-Tooth type 1A (CMT1A) patients, daily life is mainly influenced by mobility and ambulation dysfunctions. The aim of our work was to evaluate the perception disturbances that mostly impact on in CMT1A patients its difference basis age, gender, disability, quality life.Forty-one underwent neurological assessment focused establishing clinical disability through Neuropathy Score (CMTNS) Short Form-36 (SF-36) questionnaire. We identified from CMT 5 categories [weakness lower...
Pain is a common symptom of hereditary transthyretin amyloidosis (ATTRv), however, its occurrence in late-onset ATTRv has not been investigated thoroughly. Our aim was to describe the pain experience and impact on quality life (QoL) symptomatic patients presymptomatic carriers harboring (TTR) gene mutation with phenotype.Study participants (aged ≥18 years) were consecutively recruited from four Italian centers. Clinical disability assessed using Familial Amyloid Polyneuropathy (FAP) stage...
Abstract Introduction Hereditary transthyretin-mediated amyloidosis (ATTRv, v for variant) is a progressive disease caused by mutations in the TTR gene, leading to sensory-motor, axonal and length-dependent neuropathy. However, some patients may show variable electrophysiological pattern. The aim of this study was evaluate features amyloid neuropathy at time first nerve conduction (NCS) assess whether there were distinguishing useful early diagnosis. Methods We retrospectively revised...
Background and aims: Peripheral neuropathies are amongst the most common neurological conditions worldwide affecting over 20 million people.No diseasemodifying treatment has been established in these where 40% of patients with primary peripheral have no disease-causing mutation identified.Methods: We investigated gene-negative polyneuropathies using a combination whole genome sequencing, homozigosity mapping segregation analysis.Pathogenicity was confirmed via enzymatic assays mass...
Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is a rare, autosomal dominant, and devastating disease. If untreated, the disease fatal within 4–15 years from onset. Thus, diagnosis in early stages of ATTRv crucial to start treatment prevent or delay progression. However, symptomatic TTR gene mutation carriers may be challenging. Purpose We aimed identifying indexes cardiac and/or neurological involvement pre-symptomatic subjects (carriers) harboring mutation. Methods Eight...