{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,15]],"date-time":"2025-11-15T03:39:54Z","timestamp":1763177994074,"version":"3.45.0"},"reference-count":28,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T00:00:00Z","timestamp":1753920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Revue Neurologique"],"published-print":{"date-parts":[[2025,11]]},"DOI":"10.1016\/j.neurol.2025.06.016","type":"journal-article","created":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T15:43:21Z","timestamp":1762962201000},"page":"915-921","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic & therapeutic challenges of presymptomatic hereditary transthyretin amyloidosis"],"prefix":"10.1016","volume":"181","author":[{"given":"A.","family":"Echaniz-Laguna","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Algalarrondo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurol.2025.06.016_bib0145","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1016\/S1474-4422(23)00334-4","article-title":"Hereditary transthyretin amyloid neuropathies: advances in pathophysiology, biomarkers, and treatment","volume":"22","author":"Adams","year":"2023","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.neurol.2025.06.016_bib0150","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1182\/blood.2023019884","article-title":"Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide, and CRISPR-Cas9 treatments","volume":"142","author":"Adams","year":"2023","journal-title":"Blood"},{"key":"10.1016\/j.neurol.2025.06.016_bib0155","unstructured":"French recommendations for the diagnosis and treatment of ATTRv. https:\/\/www.has-sante.fr\/upload\/docs\/application\/pdf\/2022-07\/texte_pnds_ttr_final.pdf."},{"key":"10.1016\/j.neurol.2025.06.016_bib0160","doi-asserted-by":"crossref","first-page":"2292","DOI":"10.1007\/s12325-022-02139-9","article-title":"Clinical and genetic evaluation of people with or at risk of hereditary ATTR amyloidosis: an expert opinion and consensus on best practice in Ireland and the UK","volume":"39","author":"Gillmore","year":"2022","journal-title":"Adv Ther"},{"key":"10.1016\/j.neurol.2025.06.016_bib0165","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1186\/s13023-020-01633-z","article-title":"Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus","volume":"15","author":"Grandis","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.neurol.2025.06.016_bib0170","doi-asserted-by":"crossref","first-page":"295","DOI":"10.20344\/amp.10526","article-title":"Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal","volume":"32","author":"Paneque","year":"2019","journal-title":"Acta Med Port"},{"key":"10.1016\/j.neurol.2025.06.016_bib0175","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.1097\/WCO.0000000000000290","article-title":"Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis","volume":"29\u00a0Suppl.\u00a01","author":"Obici","year":"2016","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.neurol.2025.06.016_bib0180","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/j.ejmg.2018.03.010","article-title":"Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases","volume":"61","author":"L\u00eado","year":"2018","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.neurol.2025.06.016_bib0185","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.nmd.2008.09.017","article-title":"Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy","volume":"19","author":"Graceffa","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.neurol.2025.06.016_bib0190","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/s10286-022-00921-x","article-title":"Cardiovascular reflex tests detect autonomic dysfunction in symptomatic and pre-symptomatic subjects with hereditary transthyretin amyloidosis","volume":"33","author":"Guaraldi","year":"2023","journal-title":"Clin Auton Res"},{"key":"10.1016\/j.neurol.2025.06.016_bib0195","doi-asserted-by":"crossref","first-page":"2877","DOI":"10.3390\/biomedicines10112877","article-title":"Quantitative sensory testing in late-onset ATTRv presymptomatic subjects: a single center experience","volume":"10","author":"Tozza","year":"2022","journal-title":"Biomedicines"},{"key":"10.1016\/j.neurol.2025.06.016_bib0200","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.3390\/brainsci12081037","article-title":"Nerve conduction studies of dorsal sural nerve: normative data and its potential application in ATTRv pre-symptomatic subjects","volume":"12","author":"Luigetti","year":"2022","journal-title":"Brain Sci"},{"key":"10.1016\/j.neurol.2025.06.016_bib0205","doi-asserted-by":"crossref","first-page":"120329","DOI":"10.1016\/j.jns.2022.120329","article-title":"Magnetic resonance imaging of dorsal root ganglion in a pre-symptomatic subject with familial amyloid polyneuropathy transthyretin E61K","volume":"440","author":"Murakami","year":"2022","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.neurol.2025.06.016_bib0210","doi-asserted-by":"crossref","first-page":"2192","DOI":"10.1212\/WNL.0000000000004016","article-title":"Early skin denervation in hereditary and iatrogenic transthyretin amyloid neuropathy","volume":"88","author":"Masuda","year":"2017","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2025.06.016_bib0215","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1111\/ene.15268","article-title":"Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis","volume":"29","author":"Leonardi","year":"2022","journal-title":"Eur J Neurol"},{"issue":"6","key":"10.1016\/j.neurol.2025.06.016_bib0220","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1136\/jnnp-2023-332180","article-title":"Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers","volume":"95","author":"Beauvais","year":"2024","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.neurol.2025.06.016_bib0225","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/s00401-022-02501-9","article-title":"Neuropathology of central nervous system involvement in TTR amyloidosis","volume":"145","author":"Taipa","year":"2023","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.neurol.2025.06.016_bib0230","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.jchf.2021.10.009","article-title":"Can we manage presymptomatic TTRV142I related risk?","volume":"10","author":"Murray","year":"2022","journal-title":"JACC Heart Fail"},{"key":"10.1016\/j.neurol.2025.06.016_bib0235","doi-asserted-by":"crossref","first-page":"3483","DOI":"10.1007\/s00415-023-11689-z","article-title":"Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis","volume":"270","author":"Thimm","year":"2023","journal-title":"J Neurol"},{"key":"10.1016\/j.neurol.2025.06.016_bib0240","doi-asserted-by":"crossref","first-page":"359","DOI":"10.3390\/diagnostics13030359","article-title":"Ocular morpho-functional evaluation in ATTRv pre-symptomatic carriers: a case series","volume":"13","author":"Maceroni","year":"2023","journal-title":"Diagnostics (Basel)"},{"key":"10.1016\/j.neurol.2025.06.016_bib0245","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1080\/13506129.2022.2117601","article-title":"Pupillometric findings in ATTRv patients and carriers: results from a single-center experience","volume":"29","author":"Romano","year":"2022","journal-title":"Amyloid"},{"key":"10.1016\/j.neurol.2025.06.016_bib0250","doi-asserted-by":"crossref","first-page":"2845","DOI":"10.1007\/s10072-021-05850-7","article-title":"Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-center experience","volume":"43","author":"Luigetti","year":"2022","journal-title":"Neurol Sci"},{"key":"10.1016\/j.neurol.2025.06.016_bib0255","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1080\/13506129.2024.2409760","article-title":"Neurofilament light chain as a biomarker for hereditary ATTR amyloidosis\u00a0\u2013\u00a0correlation between neurofilament light chain and nerve conduction study","volume":"31","author":"Tajiri","year":"2024","journal-title":"Amyloid"},{"key":"10.1016\/j.neurol.2025.06.016_bib0260","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/jns.12524","article-title":"Serum neurofilament light chain as a reliable biomarker of hereditary transthyretin-related amyloidosis\u00a0\u2013\u00a0a Swiss reference center experience","volume":"28","author":"Loser","year":"2023","journal-title":"J Peripher Nerv Syst"},{"key":"10.1016\/j.neurol.2025.06.016_bib0265","unstructured":"Observational study of neurofilament light chain (NfL) as a biomarker in asymptomatic carriers of the transthyretin (TTR) variants and patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy. https:\/\/clinicaltrials.gov\/study\/NCT06360289?cond=neurofeel&rank=1#study-overview."},{"key":"10.1016\/j.neurol.2025.06.016_bib0270","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1056\/NEJMc2300802","article-title":"Risdiplam for prenatal therapy of spinal muscular atrophy","volume":"392","author":"Finkel","year":"2025","journal-title":"N Engl J Med"},{"key":"10.1016\/j.neurol.2025.06.016_bib0275","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1002\/acn3.52018","article-title":"Early spinal muscular atrophy treatment following newborn screening: a 20-month review of the first Italian regional experience","volume":"11","author":"Gagliardi","year":"2024","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.neurol.2025.06.016_bib0280","unstructured":"Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) study in asymptomatic carriers of a pathogenic TTR variant. https:\/\/clinicaltrials.gov\/study\/NCT06563895?cond=act-early%20acoramidis&rank=1."}],"container-title":["Revue Neurologique"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0035378725005776?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0035378725005776?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,15]],"date-time":"2025-11-15T03:37:41Z","timestamp":1763177861000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0035378725005776"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":28,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["S0035378725005776"],"URL":"https:\/\/doi.org\/10.1016\/j.neurol.2025.06.016","relation":{},"ISSN":["0035-3787"],"issn-type":[{"type":"print","value":"0035-3787"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnostic & therapeutic challenges of presymptomatic hereditary transthyretin amyloidosis","name":"articletitle","label":"Article Title"},{"value":"Revue Neurologique","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurol.2025.06.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}]}}