A5063329926- Amyloidosis: Diagnosis, Treatment, Outcomes
- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Dermatological and Skeletal Disorders
- Olfactory and Sensory Function Studies
- Botulinum Toxin and Related Neurological Disorders
- Lysosomal Storage Disorders Research
- SARS-CoV-2 and COVID-19 Research
- Eosinophilic Disorders and Syndromes
- Autoimmune Neurological Disorders and Treatments
- Alzheimer's disease research and treatments
- Peripheral Nerve Disorders
- Peptidase Inhibition and Analysis
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Heparin-Induced Thrombocytopenia and Thrombosis
- Neuroinflammation and Neurodegeneration Mechanisms
- Prion Diseases and Protein Misfolding
- Acne and Rosacea Treatments and Effects
- Ginkgo biloba and Cashew Applications
- Conducting polymers and applications
- Amino Acid Enzymes and Metabolism
- Alcoholism and Thiamine Deficiency
University of Verona
2016-2025
Sapienza University of Rome
2024
Azienda Ospedaliera Sant'Andrea
2024
Azienda Ospedaliera Universitaria Integrata Verona
2018-2019
University of Padua
2013-2015
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...
In patients with suspected dementia Lewy bodies, the detection of disease-associated α-synuclein in easily accessible tissues amenable to be collected using minimally invasive procedures remains a major diagnostic challenge. This approach has potential take advantage modern molecular assays for diagnosis α-synucleinopathy and, turn, optimize recruitment and selection clinical trials, drugs directed at counteracting aggregation. this study, we explored accuracy real-time quaking-induced...
In patients with Parkinson's disease (PD), real-time quaking-induced conversion (RT-QuIC) detection of pathological α-synuclein (α-syn) in olfactory mucosa (OM) is not as accurate other α-synucleinopathies. It unknown whether these variable results might be related to a different distribution α-syn OM. Thus, we investigated nasal swab (NS) performed areas coverage by neuroepithelium, such agger nasi (AN) and middle turbinate (MT), affect the α-syn.NS was 66 PD 29 non-PD between September...
A novel neuronal tauopathy, mainly confined to hypothalamus and brainstem tegmentum, has recently been reported in patients with autoantibodies the cell-adhesion molecule IgLON5. We describe a patient anti-IgLON5 syndrome, who presented dysautonomia sleep disorder, followed by subacute dementia. Postmortem brain examination disclosed tau pathology prevailing hippocampus, amygdala, locus coeruleus, addition microglial/neuronal TDP-43 pathology, overexpression of aberrantly phosphorylated...
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....
A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as slowly evolving sensory neuropathy at onset. "Chronic Idiopathic Axonal Polyneuropathy" (CIAP) is common indolent axonal of adulthood which remains without an identifiable cause despite thorough investigations.We screened 234 probands diagnosed CIAP for pathogenic RFC1...
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...
Idiopathic normal-pressure hydrocephalus (iNPH) can resemble or occur in combination with other brain disorders frequently present the elderly such as Alzheimer's disease (AD) and dementia Lewy bodies (DLB).To study accuracy of a simplified callosal angle measure differentiating iNPH from DLB AD using conventional MRI.76 patients (24 iNPH, 30 DLB, 22 AD) 40 healthy controls served discovering cohort. The was obtained on standard coronal MRI images crossing corpus callosum midpoint. 41 (21 20...
Abstract The therapeutic advance in hereditary transthyretin amyloidosis (ATTRv amyloidosis) requires quantitative biomarkers of nerve involvement order to foster early diagnosis and monitor therapy response. We aimed at quantitatively assessing Magnetic Resonance Neurography (MRN) Diffusion Tensor Imaging (DTI) properties the sciatic subjects with ATTRv-amyloidosis-polyneuropathy (ATTRv-PN) pre-symptomatic carriers (ATTRv-C). Twenty pathogenic variants TTR gene (mean age 62.20 ± 12.04...
Hereditary transthyretin (ATTRv, v for variant) amyloidosis with polyneuropathy is a rare disease caused by mutations in the gene. In ATTRv amyloidosis, multisystem extracellular deposits of amyloid cause tissue and organ dysfunction. Patisiran small interfering RNA molecule drug that reduces circulating levels mutant wild-type TTR proteins. Prior to its regulatory approval, patisiran was available Italy through compassionate use programme (CUP). The aim this study analyse long-term outcomes...
Rapidly progressive dementia (RPD) is a rare presentation of different neurological disorders characterized by cognitive impairment leading to loss functional independence within 24 months or less. The increasing recognition treatable non-prion causes RPD has made the differential diagnosis with sporadic Creutzfeldt-Jakob disease (sCJD) crucial importance. We therefore assessed frequency etiologies and evaluated accuracy newly proposed diagnostic criteria for sCJD. Clinical records patients...
Abstract Background Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory motor neuropathy, autonomic dysfunction, cardiomyopathy. The progressive decline of patient’s functional autonomy negatively affects the quality life requires increasing involvement relatives in daily life. Family caregiving may become particularly demanding when patient no longer able to move independently. This study focused on psychosocial aspects...
Biallelic mutation/expansion of the gene RFC1 has been described in association with a spectrum manifestations ranging from isolated sensory neuro(no)pathy to complex presentation as cerebellar ataxia neuropathy and vestibular areflexia syndrome (CANVAS). Our aim was define frequency characteristics small fiber (SFN) disease at different stages.RFC1 cases were screened for SFN using Neuropathic Pain Symptom Inventory Composite Autonomic Score 31 questionnaires. Clinical data retrospectively...
Background Shoe inserts, orthopaedic shoes, ankle-foot orthoses (AFOs) are important devices in Charcot-Marie-Tooth disease (CMT) management, but data about use, benefits and tolerance scanty. Methods We administered to Italian CMT Registry patients an online ad hoc questionnaire investigating complications perceived benefit/tolerability/emotional distress of shoe AFOs other orthoses/aids. Patients were also asked fill the Quebec User Evaluation Satisfaction with assistive Technology...
Pain, either nociceptive or neuropathic (NP), is a common symptom in Charcot-Marie-Tooth (CMT) disease.We investigated small fibers involvement and its correlation with pain different CMT subtypes through systematic clinical neurophysiological study. We enrolled 50 patients: 19 duplication of PMP22 (CMT1A), 11 mutation MPZ (CMT1B, CMT2I/J, CMTDID), 12 GJB1 (CMTX1), 8 MFN2 (CMT2A CMT2A2B). Pain was rated the 11-point Numerical Rating Scale characterized Neuropathic Symptoms Inventory....
The QTc interval is the electrocardiographic manifestation of ventricular depolarization and repolarization. This marker often prolonged in acute chronic neurological conditions. cause cerebrogenic QT prolongation remains unclear. aim study was to analyze relation b etween degree cognitive impairment structural brain imaging changes patients with dementia mild (MCI). To this aim, 269 were screened, whom 61 met one or more exclusion criteria. remaining 208 (56 control subjects, 44 MCI, 108...
Abstract To describe clinical features, disease course, treatment response, and sural nerve biopsy findings in a patient with chronic sensory ataxic neuropathy, Binet stage A lymphocytic leukemia, monoclonal IgMλ paraprotein against ganglioside GD1b. During 9 months of hospitalization at two neurologic centers, the underwent serial examinations, neurophysiologic studies, imaging investigations, extensive laboratory work‐up, bone marrow, biopsies. The had severe progressive neuropathy...