Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?

A Romano, G Primiano, G Antonini… - European Journal of …, 2024 - Wiley Online Library
Background and purpose Hereditary transthyretin amyloidosis (ATTRv) is a life‐threatening
disease caused by mutations in the gene encoding transthyretin (TTR). The recent …

[HTML][HTML] Renal involvement in hereditary transthyretin amyloidosis: an Italian single-centre experience

PM Ferraro, V D'Ambrosio, A Di Paolantonio… - Brain sciences, 2021 - mdpi.com
Objective: Hereditary transthyretin amyloidosis (ATTRv) represents a diagnostic challenge
considering the great variability of clinical presentation and multiorgan involvement. In the …

[HTML][HTML] Patisiran enhances muscle mass after nine months of treatment in ATTRv amyloidosis: a study with bioelectrical impedance analysis and handgrip strength

V Di Stefano, E Thomas, P Alonge, V Giustino… - Biomedicines, 2022 - mdpi.com
Background and aims. Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is
caused by mutations in the TTR gene, leading to misfolded monomers that aggregate …

[HTML][HTML] Nerve conduction studies of dorsal sural nerve: normative data and its potential application in ATTRv pre-symptomatic subjects

M Luigetti, V Guglielmino, M Romozzi, A Romano… - Brain Sciences, 2022 - mdpi.com
The objective of the study is to provide age-related normative values for dorsal sural nerve
(DSN) and to analyse its application during follow-up of hereditary transthyretin amyloidosis …

[HTML][HTML] Identification and management of gastrointestinal manifestations of hereditary transthyretin amyloidosis: Recommendations from an Italian group of experts

M Cappello, G Barbara, M Bellini, D Consalvo… - Digestive and Liver …, 2024 - Elsevier
Gastrointestinal manifestations are common across all hereditary transthyretin amyloidosis
(ATTRv) genotypes. However, they are poorly specific, and their recognition as part of …

[HTML][HTML] Emerging multisystem biomarkers in hereditary transthyretin amyloidosis: a pilot study

M Luigetti, F Vitali, A Romano, MA Sciarrone… - Scientific Reports, 2024 - nature.com
Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset, progressive,
multisystemic condition caused by TTR pathogenic variants. Reliable biomarkers are …

Pupillometric findings in ATTRv patients and carriers: Results from a single-centre experience

A Romano, V Guglielmino, A Di Paolantonio, G Bisogni… - Amyloid, 2022 - Taylor & Francis
Abstract Introduction Hereditary transthyretin amyloidosis (ATTRv) is a treatable
multisystemic disease with great phenotypic heterogeneity. Among extra-neurological …

[HTML][HTML] Muscle MRI as a useful biomarker in hereditary transthyretin amyloidosis: a pilot study

G Primiano, T Verdolotti, G D'Apolito, A Di Paolantonio… - Genes, 2021 - mdpi.com
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous
multisystem condition with a prevalent peripheral nervous system impairment, due to …

Clinical, Endoscopic, and Histopathologic Observations in Gastrointestinal Amyloidosis

V Pavel, M Müller, C Kunst, K Utpatel… - … and Liver Diseases, 2023 - epub.uni-regensburg.de
Background and Aims: Amyloidosis is a group of systemic disorders caused by extracellular
deposition of misfolded serum proteins. Gastrointestinal (GI) involvement is associated with …

[HTML][HTML] Trajectories of kidney function in patients with ATTRv treated with gene silencers

M Luigetti, V Guglielmino, A Romano, MA Sciarrone… - Genes, 2022 - mdpi.com
Hereditary transthyretin amyloidosis (ATTRv; v for “variant”) is the most common form of
hereditary amyloidosis, with an autosomal dominant inheritance and a variable penetrance …