Evidence map›Paper›PMID 39800979›Full record

ArticleJournal of the peripheral nervous system : JPNS2025

Minimal invasive biopsies are highly sensitive for amyloid detection in hereditary transthyretin amyloidosis with polyneuropathy.

Luca Leonardi, Clovis Adam, Guillemette Beaudonnet, Diane Beauvais, Cécile Cauquil, Adeline Not, Olivier Morassi, Olivier Trassard, Andoni Echaniz-Laguna, David Adams and 1 more

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Article in Journal of the peripheral nervous system : JPNS, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Luca LeonardiReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.ORCID 0000-0002-1267-864X
Clovis AdamReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.
Guillemette BeaudonnetReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.
Diane BeauvaisReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.
Cécile CauquilReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.
Adeline NotReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.
Olivier MorassiReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.
Olivier TrassardPathology Department, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.
Andoni Echaniz-LagunaReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.ORCID 0000-0003-1012-9783
David AdamsReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.
Céline LabeyrieReferral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo 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-PN).

methodsIn this single-center retrospective study, Congo red staining of minimal invasive LSGB (4 mm) and SB (3 mm) was assessed in ATTRv-PN patients consecutively evaluated between 2012 and 2023.

resultsHistopathological data of 171 ATTRv-PN, including 49 early-onset p.Val50Met, 58 late-onset p.Val50Met, and 64 non-p.Val50Met, were reviewed. LSGB and SB identified amyloid deposits in 123/171 (72%) and 131/171 (77%) patients respectively (p = 0.2). Combining LSGB and SB increased the amyloid detection rate to 150/171 (88%), especially in late-onset p.Val50Met (48/58 [83%]) and non-p.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-stage ATTRv-PN patients.

conclusionsIn our study, combining LSGB and SB allowed the detection of amyloid deposits in 88% of ATTRv-PN patients. LSGB/SB analysis may be of major interest to confirm entry in the disease at very early-stage ATTRv-PN, with implications in disease-modifying treatment initiation.

Indexed as

Amyloid Neuropathies, FamilialPolyneuropathiesSalivary Glands, MinorSkinAdultAgedAged, 80 and overBiopsyFemaleHumansMaleMiddle AgedRetrospective Studiesamyloid depositionhereditary transthyretin amyloidosislabial salivary gland biopsypolyneuropathyskin biopsy

Identifiers

PMID39800979
PMCPMC11725696

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.