{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T04:31:03Z","timestamp":1777350663630,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,12]],"date-time":"2025-01-12T00:00:00Z","timestamp":1736640000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To assess the effectiveness of labial minor salivary gland biopsy (LSGB) alone or in combination with punch skin biopsy (SB) for the detection of amyloid deposits in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv\u2010PN).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this single\u2010center retrospective study, Congo red staining of minimal invasive LSGB (4\u2009mm) and SB (3\u2009mm) was assessed in ATTRv\u2010PN patients consecutively evaluated between 2012 and 2023.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Histopathological data of 171 ATTRv\u2010PN, including 49 early\u2010onset p.Val50Met, 58 late\u2010onset p.Val50Met, and 64 non\u2010p.Val50Met, were reviewed. LSGB and SB identified amyloid deposits in 123\/171 (72%) and 131\/171 (77%) patients respectively (<jats:italic>p<\/jats:italic>\u2009=\u20090.2). Combining LSGB and SB increased the amyloid detection rate to 150\/171 (88%), especially in late\u2010onset p.Val50Met (48\/58 [83%]) and non\u2010p.Val50Met patients (55\/64 [86%]). LSGB and SB have a similar rate of detection of amyloid depositions in early onset p.Val50Met patients (94%). Also, the LSGB\/SB combination identified amyloidosis in 89% (55\/62) of early\u2010stage ATTRv\u2010PN patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In our study, combining LSGB and SB allowed the detection of amyloid deposits in 88% of ATTRv\u2010PN patients. LSGB\/SB analysis may be of major interest to confirm entry in the disease at very early\u2010stage ATTRv\u2010PN, with implications in disease\u2010modifying treatment initiation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.12680","type":"journal-article","created":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T06:09:59Z","timestamp":1736748599000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Minimal invasive biopsies are highly sensitive for amyloid detection in hereditary transthyretin amyloidosis with polyneuropathy"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1267-864X","authenticated-orcid":false,"given":"Luca","family":"Leonardi","sequence":"first","affiliation":[{"name":"Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bic\u00eatre University Hospital, AP\u2010HP  Le Kremlin 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 Le Kremlin Bic\u00eatre France"},{"name":"Neurophysiology and Epileptology Department Bic\u00eatre University Hospital, AP\u2010HP  Le Kremlin Bic\u00eatre France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane","family":"Beauvais","sequence":"additional","affiliation":[{"name":"Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bic\u00eatre University Hospital, AP\u2010HP  Le Kremlin Bic\u00eatre France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Cauquil","sequence":"additional","affiliation":[{"name":"Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bic\u00eatre University Hospital, AP\u2010HP  Le Kremlin Bic\u00eatre 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