View in EDS HTML Full Text PDF Full Text

Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis.

Saved in:
Bibliographic Details
Title: Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis.
Authors: Leonardi, Luca (AUTHOR), Adam, Clovis (AUTHOR), Beaudonnet, Guillemette (AUTHOR), Beauvais, Diane (AUTHOR), Cauquil, Cécile (AUTHOR), Not, Adeline (AUTHOR), Morassi, Olivier (AUTHOR), Benmalek, Anouar (AUTHOR), Trassard, Olivier (AUTHOR), Echaniz‐Laguna, Andoni (AUTHOR), Adams, David (AUTHOR), Labeyrie, Céline (AUTHOR)
Source: European Journal of Neurology. May2022, Vol. 29 Issue 5, p1477-1487. 11p.
Subjects: Amyloid plaque, Nerve fibers, Transthyretin, Amyloidosis, Asymptomatic patients, Cardiac amyloidosis, Polyneuropathies
Abstract: Background and purpose: This study was undertaken to assess skin biopsy as a marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv‐PN), a treatable disease. Methods: In this single center retrospective study, skin Congo red staining and intraepidermal nerve fiber density (IENFD) were evaluated in symptomatic ATTRv‐PN patients and asymptomatic TTR gene mutation carriers between 2012 and 2019. Non‐ATTRv subjects with suspected small fiber neuropathy who underwent skin biopsy during the same timespan were used as controls. Results: One hundred eighty‐three symptomatic ATTRv‐PN patients, 36 asymptomatic carriers, and 537 non‐ATTRv patients were included. Skin biopsy demonstrated amyloid depositions in 80% of the 183 symptomatic cases. Skin amyloid deposits were found in 75% of early stage ATTRv‐PN patients, and in 14% of asymptomatic carriers. All 183 symptomatic and 34 of 36 asymptomatic patients displayed decreased ankle IENFD with a proximal–distal gradient distribution, and reduced IEFND correlated with disease severity and duration. Conclusions: Our study demonstrates skin amyloid deposits are a marker of ATTRv‐PN disease onset, and decreased IENFD a marker of disease progression. These results are of major importance for the early identification of ATTRv‐PN patients in need of disease‐modifying treatments. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 156251377
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Leonardi%2C+Luca%22">Leonardi, Luca</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Adam%2C+Clovis%22">Adam, Clovis</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Beaudonnet%2C+Guillemette%22">Beaudonnet, Guillemette</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Beauvais%2C+Diane%22">Beauvais, Diane</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cauquil%2C+Cécile%22">Cauquil, Cécile</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Not%2C+Adeline%22">Not, Adeline</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Morassi%2C+Olivier%22">Morassi, Olivier</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Benmalek%2C+Anouar%22">Benmalek, Anouar</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Trassard%2C+Olivier%22">Trassard, Olivier</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Echaniz‐Laguna%2C+Andoni%22">Echaniz‐Laguna, Andoni</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Adams%2C+David%22">Adams, David</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Labeyrie%2C+Céline%22">Labeyrie, Céline</searchLink> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. May2022, Vol. 29 Issue 5, p1477-1487. 11p.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Amyloid+plaque%22">Amyloid plaque</searchLink><br /><searchLink fieldCode="DE" term="%22Nerve+fibers%22">Nerve fibers</searchLink><br /><searchLink fieldCode="DE" term="%22Transthyretin%22">Transthyretin</searchLink><br /><searchLink fieldCode="DE" term="%22Amyloidosis%22">Amyloidosis</searchLink><br /><searchLink fieldCode="DE" term="%22Asymptomatic+patients%22">Asymptomatic patients</searchLink><br /><searchLink fieldCode="DE" term="%22Cardiac+amyloidosis%22">Cardiac amyloidosis</searchLink><br /><searchLink fieldCode="DE" term="%22Polyneuropathies%22">Polyneuropathies</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background and purpose: This study was undertaken to assess skin biopsy as a marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv‐PN), a treatable disease. Methods: In this single center retrospective study, skin Congo red staining and intraepidermal nerve fiber density (IENFD) were evaluated in symptomatic ATTRv‐PN patients and asymptomatic TTR gene mutation carriers between 2012 and 2019. Non‐ATTRv subjects with suspected small fiber neuropathy who underwent skin biopsy during the same timespan were used as controls. Results: One hundred eighty‐three symptomatic ATTRv‐PN patients, 36 asymptomatic carriers, and 537 non‐ATTRv patients were included. Skin biopsy demonstrated amyloid depositions in 80% of the 183 symptomatic cases. Skin amyloid deposits were found in 75% of early stage ATTRv‐PN patients, and in 14% of asymptomatic carriers. All 183 symptomatic and 34 of 36 asymptomatic patients displayed decreased ankle IENFD with a proximal–distal gradient distribution, and reduced IEFND correlated with disease severity and duration. Conclusions: Our study demonstrates skin amyloid deposits are a marker of ATTRv‐PN disease onset, and decreased IENFD a marker of disease progression. These results are of major importance for the early identification of ATTRv‐PN patients in need of disease‐modifying treatments. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=156251377
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/ene.15268
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 11
        StartPage: 1477
    Subjects:
      – SubjectFull: Amyloid plaque
        Type: general
      – SubjectFull: Nerve fibers
        Type: general
      – SubjectFull: Transthyretin
        Type: general
      – SubjectFull: Amyloidosis
        Type: general
      – SubjectFull: Asymptomatic patients
        Type: general
      – SubjectFull: Cardiac amyloidosis
        Type: general
      – SubjectFull: Polyneuropathies
        Type: general
    Titles:
      – TitleFull: Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Leonardi, Luca
      – PersonEntity:
          Name:
            NameFull: Adam, Clovis
      – PersonEntity:
          Name:
            NameFull: Beaudonnet, Guillemette
      – PersonEntity:
          Name:
            NameFull: Beauvais, Diane
      – PersonEntity:
          Name:
            NameFull: Cauquil, Cécile
      – PersonEntity:
          Name:
            NameFull: Not, Adeline
      – PersonEntity:
          Name:
            NameFull: Morassi, Olivier
      – PersonEntity:
          Name:
            NameFull: Benmalek, Anouar
      – PersonEntity:
          Name:
            NameFull: Trassard, Olivier
      – PersonEntity:
          Name:
            NameFull: Echaniz‐Laguna, Andoni
      – PersonEntity:
          Name:
            NameFull: Adams, David
      – PersonEntity:
          Name:
            NameFull: Labeyrie, Céline
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: May2022
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-print
              Value: 13515101
          Numbering:
            – Type: volume
              Value: 29
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: European Journal of Neurology
              Type: main
ResultId 1