{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:14:05Z","timestamp":1777803245555,"version":"3.51.4"},"reference-count":49,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_dx-2025-0042_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, progressive neurodegenerative disorder caused by mutations in the transthyretin (\n                      <jats:italic>TTR<\/jats:italic>\n                      ) gene. The disease leads to systemic amyloid deposition, primarily affecting the nervous system and, in some cases, the heart. Early diagnosis and monitoring are critical for effective management, yet reliable biomarkers remain limited. This study aimed to investigate the role of serum glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL) as biomarkers in ATTRv-PN.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_dx-2025-0042_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A retrospective observational study was conducted at the University Hospital Paolo Giaccone, enrolling ATTRv-PN patients, asymptomatic\n                      <jats:italic>TTR<\/jats:italic>\n                      mutation carriers, and healthy blood donors. Serum GFAP and NfL levels were measured using a fully automated immunoassay (Lumipulse G1200).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_dx-2025-0042_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 119 participants were included: ATTRv-PN (n=23), carriers (n=27), and healthy controls (n=69). GFAP levels were significantly elevated in ATTRv-PN patients compared to carriers and healthy controls (p&lt;0.001), with the highest levels observed in individuals with the V122I mutation. The median NfL levels were also significantly elevated in ATTRv-PN patients (30.74\u202fpg\/mL) compared to carriers (11.59\u202fpg\/mL) and healthy controls (12.86\u202fpg\/mL) (p&lt;0.001). Additionally, a significant negative correlation was observed between NfL levels and clinical severity scores, indicating its association with disease severity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_dx-2025-0042_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These findings support the usefulness of serum NfL as a prognostic tool in ATTRv-PN and highlight the potential involvement of astrocyte activation in disease pathology. Further longitudinal studies are needed to validate these biomarkers for clinical application.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/dx-2025-0042","type":"journal-article","created":{"date-parts":[[2025,6,9]],"date-time":"2025-06-09T06:14:20Z","timestamp":1749449660000},"page":"106-115","source":"Crossref","is-referenced-by-count":2,"title":["Exploring the role of glial fibrillary acid protein and neurofilament light chains in patients with hereditary transthyretin amyloidosis with polyneuropathy"],"prefix":"10.1515","volume":"13","author":[{"given":"Caterina Maria","family":"Gambino","sequence":"first","affiliation":[{"name":"Department of Biomedicine, Neurosciences and Advanced Diagnostics , Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, University of Palermo , Palermo , Italy"},{"name":"Department of Laboratory Medicine , University Hospital Paolo Giaccone , Palermo , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Agnello","sequence":"additional","affiliation":[{"name":"Department of Biomedicine, Neurosciences and Advanced Diagnostics , Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, University of Palermo , Palermo , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Di Stefano","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Biomedicine , Neuroscience and Advanced Diagnostics (Bi.N.D.), University of Palermo , Palermo , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1880-0669","authenticated-orcid":false,"given":"Fabio","family":"Del Ben","sequence":"additional","affiliation":[{"name":"Immunopathology and Cancer Biomarkers, Centro di Riferimento Oncologico (CRO)-IRCCS , Aviano , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Masucci","sequence":"additional","affiliation":[{"name":"Department of Biomedicine, Neurosciences and Advanced Diagnostics , Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, University of Palermo , Palermo , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Tamburello","sequence":"additional","affiliation":[{"name":"Department of Biomedicine, Neurosciences and Advanced Diagnostics , Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, University of Palermo , Palermo , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Vassallo","sequence":"additional","affiliation":[{"name":"Department of Biomedicine, Neurosciences and Advanced Diagnostics , Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, University of Palermo , Palermo , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concetta","family":"Scazzone","sequence":"additional","affiliation":[{"name":"Department of Biomedicine, Neurosciences and Advanced Diagnostics , Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, University of Palermo , Palermo , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Maria","family":"Ciaccio","sequence":"additional","affiliation":[{"name":"Department of Health Promotion , Maternal and Child Health, Internal Medicine, and Specialty Excellence \u201cG. D\u2019Alessandro\u201d (PROMISE), Internal Medicine and Stroke Care Ward, University of Palermo , Palermo , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Brighina","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Biomedicine , Neuroscience and Advanced Diagnostics (Bi.N.D.), University of Palermo , Palermo , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcello","family":"Ciaccio","sequence":"additional","affiliation":[{"name":"Department of Biomedicine, Neurosciences and Advanced Diagnostics , Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, University of Palermo , Palermo , Italy"},{"name":"Department of Laboratory Medicine , University Hospital Paolo Giaccone , Palermo , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,6,10]]},"reference":[{"key":"2026030615414915749_j_dx-2025-0042_ref_001","doi-asserted-by":"crossref","unstructured":"Ando, Y, Coelho, T, Berk, JL, Cruz, MW, Ericzon, BG, Ikeda, S, et al.. 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