Maria Ausilia Sciarrone

Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran‐Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly)

Marco Ceccanti, Pietro Guaraldi, Angela Romano, Giovanni Antonini et autres

BACKGROUND: The F64L variant is among the most frequent TTR mutations in Italy, typically associated with a predominantly neurologic phenotype and limited cardiac involvement. METHODS: Data from 181 ATTRv patients in the multicenter Patisiranitaly database treated with Patisiran since 2020 were analyzed. …

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A Quantitative Assessment of Upper Limb Motor Function Across Disease Stages in Hereditary Transthyretin Amyloidosis

Mehrnaz Hamedani, Valeria Prada, Sara Massucco, Edoardo Roveta et autres

BACKGROUND AND AIMS: Hereditary transthyretin amyloidosis (ATTRv) is a multisystemic disease where early neuropathy signs are challenging to detect conventionally. This study aimed to evaluate hand motor performance in ATTRv using the Hand Test System (HTS) across disease stages and examine correlations …

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Serum peripherin as a disease biomarker in hereditary transthyretin amyloidosis: a multicenter cohort study

Domenico Plantone, Delia Righi, Angela Romano, Luca Leonardi et autres

Background Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a rare, progressive, and fatal multisystemic disease. Peripherin represents a promising biomarker for axonal damage in the peripheral nervous system (PNS). This study aims to investigate serum peripherin levels in symptomatic and presymptomatic …

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p. His110Asn: confirmation of pathological ATTRv variant

Maria Ausilia Sciarrone, Francesca Vitali, Maria Chiara Meucci, Francesca Graziani et autres

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Cascade genetic screening in families with hereditary transthyretin amyloidosis: diagnostic and prognostic impact

F Cappelli, Carlo Fumagalli, Marco Luigetti, Roberta Mussinelli et autres

BACKGROUND AND AIMS: Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disease with variable penetrance. Cascade genetic screening may enable earlier diagnosis and intervention, but its prognostic impact remains unclear. METHODS: This study retrospectively analysed 967 individuals from 431 families between 2004 …

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Early cardiac sympathetic denervation in hereditary transthyretin amyloidosis: 123 I-metaiodobenzylguanidine findings and correlation with skin biopsy

Viviana Frantellizzi, Chiara Cambieri, Eleonora Galosi, Cristina Chimenti et autres

Background Hereditary transthyretin amyloidosis (ATTRv) is a multisystem disorder caused by misfolded TTR deposition, leading to neuropathy and cardiomyopathy. Early identification of subclinical involvement remains difficult. We evaluated cardiac sympathetic innervation and small fiber neuropathy in symptomatic patients and asymptomatic carriers (AC) …

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Early cardiac sympathetic denervation in hereditary transthyretin amyloidosis: 123I-metaiodobenzylguanidine findings and correlation with skin biopsy

Viviana Frantellizzi, Chiara Cambieri, Eleonora Galosi, Cristina Chimenti et autres

Hereditary transthyretin amyloidosis (ATTRv) is a multisystem disorder caused by misfolded TTR deposition, leading to neuropathy and cardiomyopathy. Early identification of subclinical involvement remains difficult. We evaluated cardiac sympathetic innervation and small fiber neuropathy in symptomatic patients and asymptomatic carriers (AC) using …

Early cardiac sympathetic denervation in hereditary transthyretin amyloidosis: 123I-metaiodobenzylguanidine findings and correlation with skin biopsy

Viviana Frantellizzi, Chiara Cambieri, Eleonora Galosi, Cristina Chimenti et autres

Hereditary transthyretin amyloidosis (ATTRv) is a multisystem disorder caused by misfolded TTR deposition, leading to neuropathy and cardiomyopathy. Early identification of subclinical involvement remains difficult. We evaluated cardiac sympathetic innervation and small fiber neuropathy in symptomatic patients and asymptomatic carriers (AC) using …

Correction: Serum Galectin-3 as a biomarker in acute inflammatory polyradiculoneuropathies: a cohort study

Giovanni Siconolfi, Guido Primiano, Francesca Vitali, Maria Ausilia Sciarrone et autres

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Serum Galectin-3 as a biomarker in acute inflammatory polyradiculoneuropathies: a cohort study

Giovanni Siconolfi, Guido Primiano, Francesca Vitali, Maria Ausilia Sciarrone et autres

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Polyneuropathy in Wild‐Type Transthyretin Amyloidosis

Maria Ausilia Sciarrone, Francesca Vitali, Valeria Guglielmino, Angela Romano et autres

INTRODUCTION: Transthyretin amyloidosis (ATTR) is a systemic disorder characterized by the extracellular accumulation of amyloid fibrils, classified as either mutant (ATTRv, v for variant) or wild-type (ATTRwt), based on the genetic sequence of the transthyretin (TTR) protein. ATTRwt primarily manifests with cardiac …

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Neurofilament Light Chain Levels as Diagnostic and Prognostic Biomarkers in Guillain–Barré Syndrome: An Updated Systematic Review and Meta-Analysis

Giovanni Siconolfi, Francesca Vitali, Maria Ausilia Sciarrone, Valeria Guglielmino et autres

Guillain–Barré syndrome (GBS) is an acute immune-mediated disorder of the peripheral nervous system, marked by rapid onset of neurological symptoms. Despite progress in understanding the etiology and improving clinical management, no validated biomarkers are currently available to predict disease severity or treatment …

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