{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T04:10:50Z","timestamp":1772511050231,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T00:00:00Z","timestamp":1732752000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>New treatments have dramatically improved the prognosis for Hereditary Transthyretin Amyloid Polyneuropathy (ATTRv\u2010PN). However, there is a lack of routine follow\u2010up studies outside of therapeutic trials. Our aim was to report the long\u2010term clinical and electrophysiological evolution of a cohort of ATTRv\u2010PN patients and to determine which biomarkers are most sensitive to change.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively collected neuropathy impairment scale (NIS), polyneuropathy disability scale (PND), overall neuropathy limitation scale (ONLS), rash built overall disability scale (RODS), electrodiagnostic data, motor unit number index (MUNIX), troponin and N\u2010terminal pro\u2010brain natriuretic peptide levels. Electrophysiological worsening was defined as a 20% decrease in previous values.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010five patients, with a median age of 58 (interquartile ranges 42\u201371) years, were followed for a median of 36 (24\u201348) months. All patients received a transthyretin stabiliser, gene silencer or liver transplant.<\/jats:p><jats:p>Overall assessment of the cohort showed clinical, biological and electrophysiological stability. However, on an individual basis, NIS worsened in 45% of patients (14\/31), ONLS in 46% (13\/28), PND in 28% (9\/32) and RODS in 39% (11\/28) at the last follow\u2010up. Motor amplitude sum score decreased in 33% (11\/33), amplitude recorded on tibialis anterior muscle in 44% (12\/27), sensory amplitude sum score in 39% (11\/28) and MUNIX sum score in 27% (7\/26).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Overall effectiveness of ATTRv\u2010PN treatments in routine care is good. However, individual assessments show up to 40% deterioration over time. Electrophysiological measures are valuable monitoring tools but are not more sensitive to change than clinical scores. Results must be confirmed in larger cohorts.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16571","type":"journal-article","created":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T09:56:05Z","timestamp":1732787765000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Real\u2010life experience with disease\u2010modifying drugs in hereditary transthyretin amyloid polyneuropathy: A clinical and electrophysiological appraisal"],"prefix":"10.1111","volume":"32","author":[{"given":"Hadia","family":"Rebouh","sequence":"first","affiliation":[{"name":"Referral centre for neuromuscular diseases and ALS, La Timone hospital Aix\u2010Marseille University, ERN\u2010NMD, FILNEMUS  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1266-9062","authenticated-orcid":false,"given":"Annie","family":"Verschueren","sequence":"additional","affiliation":[{"name":"Referral 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