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Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).

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Title: Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).
Authors: Galosi, Eleonora (AUTHOR), Costanzo, Rocco (AUTHOR), Forcina, Francesca (AUTHOR), Morino, Stefania (AUTHOR), Antonini, Giovanni (AUTHOR), Salvetti, Marco (AUTHOR), Lauletta, Antonio (AUTHOR), Luigetti, Marco (AUTHOR), Romano, Angela (AUTHOR), Primiano, Guido (AUTHOR), Guglielmino, Valeria (AUTHOR), Fionda, Laura (AUTHOR), Garibaldi, Matteo (AUTHOR), Esposito, Nicoletta (AUTHOR), Falco, Pietro (AUTHOR), di Pietro, Giuseppe (AUTHOR), Truini, Andrea (AUTHOR), Leonardi, Luca (AUTHOR)
Source: Neurological Sciences. Oct2024, Vol. 45 Issue 10, p5023-5032. 10p.
Subjects: Skin biopsy, Peripheral nervous system, Nerve fibers, Transthyretin, Cytoplasmic filaments, Cardiac amyloidosis
Abstract: Background: Recent evidence suggests that both serum neurofilament light chain (sNfL) levels and small fiber related diagnostic variables may be valuable disease biomarkers of hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). Our study aimed to explore the relations between sNfL and small fiber related skin biopsy and quantitative sensory testing (QST) parameters in a cohort of ATTRv-PN patients and pre-symptomatic carriers. Methods: We retrospectively analyzed data from 13 ATTRv patients and 21 pre-symptomatic carriers who underwent sNfL dosage, skin biopsy, and QST, and analyzed correlations between sNFL, intraepidermal nerve fiber density (IENFD), and cold (CDT) and warm detection thresholds (WDT). Results: Both sNfL and small fiber related parameters significantly differed between carriers and patients (sNfL: p < 0.0001; IENFD: p = 0.0008; CDT, WDT: < 0.0001). sNFL levels were normal in all carriers, altered in 85% of patients, negatively correlated with distal IENFD (r = -0.47, p = 0.005), and significantly correlated with CDT (r = -0.68; p < 0.0001) and WDT (r = 0.57; p < 0.0001). Conclusions: Our study showed that sNfL reliably discriminates symptomatic ATTRv-PN patients from pre-symptomatic carriers, and found significant relations between sNfL, skin biopsy, and QST small fiber related parameters, suggesting that sNfL might be a valuable biomarker of peripheral nerve involvement in ATTRv-PN and a supportive criterion for symptomatic disease transition. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature 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.)
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  Data: Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).
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  Data: &lt;searchLink fieldCode=&quot;JN&quot; term=&quot;%22Neurological+Sciences%22&quot;&gt;Neurological Sciences&lt;/searchLink&gt;. Oct2024, Vol. 45 Issue 10, p5023-5032. 10p.
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  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Skin+biopsy%22&quot;&gt;Skin biopsy&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Peripheral+nervous+system%22&quot;&gt;Peripheral nervous system&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Nerve+fibers%22&quot;&gt;Nerve fibers&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Transthyretin%22&quot;&gt;Transthyretin&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Cytoplasmic+filaments%22&quot;&gt;Cytoplasmic filaments&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Cardiac+amyloidosis%22&quot;&gt;Cardiac amyloidosis&lt;/searchLink&gt;
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Recent evidence suggests that both serum neurofilament light chain (sNfL) levels and small fiber related diagnostic variables may be valuable disease biomarkers of hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). Our study aimed to explore the relations between sNfL and small fiber related skin biopsy and quantitative sensory testing (QST) parameters in a cohort of ATTRv-PN patients and pre-symptomatic carriers. Methods: We retrospectively analyzed data from 13 ATTRv patients and 21 pre-symptomatic carriers who underwent sNfL dosage, skin biopsy, and QST, and analyzed correlations between sNFL, intraepidermal nerve fiber density (IENFD), and cold (CDT) and warm detection thresholds (WDT). Results: Both sNfL and small fiber related parameters significantly differed between carriers and patients (sNfL: p &lt; 0.0001; IENFD: p = 0.0008; CDT, WDT: &lt; 0.0001). sNFL levels were normal in all carriers, altered in 85% of patients, negatively correlated with distal IENFD (r = -0.47, p = 0.005), and significantly correlated with CDT (r = -0.68; p &lt; 0.0001) and WDT (r = 0.57; p &lt; 0.0001). Conclusions: Our study showed that sNfL reliably discriminates symptomatic ATTRv-PN patients from pre-symptomatic carriers, and found significant relations between sNfL, skin biopsy, and QST small fiber related parameters, suggesting that sNfL might be a valuable biomarker of peripheral nerve involvement in ATTRv-PN and a supportive criterion for symptomatic disease transition. [ABSTRACT FROM AUTHOR]
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  Data: &lt;i&gt;Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder&#39;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.&lt;/i&gt; (Copyright applies to all Abstracts.)
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