Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN)
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 an...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Galosi, Eleonora [verfasserIn] Costanzo, Rocco [verfasserIn] Forcina, Francesca [verfasserIn] Morino, Stefania [verfasserIn] Antonini, Giovanni [verfasserIn] Salvetti, Marco [verfasserIn] Lauletta, Antonio [verfasserIn] Luigetti, Marco [verfasserIn] Romano, Angela [verfasserIn] Primiano, Guido [verfasserIn] Guglielmino, Valeria [verfasserIn] Fionda, Laura [verfasserIn] Garibaldi, Matteo [verfasserIn] Esposito, Nicoletta [verfasserIn] Falco, Pietro [verfasserIn] di Pietro, Giuseppe [verfasserIn] Truini, Andrea [verfasserIn] Leonardi, Luca [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2024 |
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| Schlagwörter: |
Hereditary transthyretin amyloidosis (ATTRv) |
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| Anmerkung: |
© The Author(s) 2024 |
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| Übergeordnetes Werk: |
Enthalten in: Neurological sciences - Springer International Publishing, 2000, 45(2024), 10 vom: 03. Mai, Seite 5023-5032 |
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| Übergeordnetes Werk: |
volume:45 ; year:2024 ; number:10 ; day:03 ; month:05 ; pages:5023-5032 |
| Links: |
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| DOI / URN: |
10.1007/s10072-024-07562-0 |
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| Katalog-ID: |
SPR057438986 |
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| 100 | 1 | |a Galosi, Eleonora |e verfasserin |0 (orcid)0000-0002-4464-9982 |4 aut | |
| 245 | 1 | 0 | |a Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) |
| 264 | 1 | |c 2024 | |
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| 500 | |a © The Author(s) 2024 | ||
| 520 | |a 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. | ||
| 650 | 4 | |a Hereditary transthyretin amyloidosis (ATTRv) |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Small fiber neuropathy |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Serum neurofilaments light chain |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Skin biopsy |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Quantitative sensory testing |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Costanzo, Rocco |e verfasserin |4 aut | |
| 700 | 1 | |a Forcina, Francesca |e verfasserin |4 aut | |
| 700 | 1 | |a Morino, Stefania |e verfasserin |4 aut | |
| 700 | 1 | |a Antonini, Giovanni |e verfasserin |4 aut | |
| 700 | 1 | |a Salvetti, Marco |e verfasserin |4 aut | |
| 700 | 1 | |a Lauletta, Antonio |e verfasserin |4 aut | |
| 700 | 1 | |a Luigetti, Marco |e verfasserin |4 aut | |
| 700 | 1 | |a Romano, Angela |e verfasserin |4 aut | |
| 700 | 1 | |a Primiano, Guido |e verfasserin |4 aut | |
| 700 | 1 | |a Guglielmino, Valeria |e verfasserin |4 aut | |
| 700 | 1 | |a Fionda, Laura |e verfasserin |4 aut | |
| 700 | 1 | |a Garibaldi, Matteo |e verfasserin |4 aut | |
| 700 | 1 | |a Esposito, Nicoletta |e verfasserin |4 aut | |
| 700 | 1 | |a Falco, Pietro |e verfasserin |4 aut | |
| 700 | 1 | |a di Pietro, Giuseppe |e verfasserin |4 aut | |
| 700 | 1 | |a Truini, Andrea |e verfasserin |4 aut | |
| 700 | 1 | |a Leonardi, Luca |e verfasserin |4 aut | |
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10.1007/s10072-024-07562-0 doi (DE-627)SPR057438986 (SPR)s10072-024-07562-0-e DE-627 ger DE-627 rakwb eng 610 VZ 610 VZ 44.90 bkl Galosi, Eleonora verfasserin (orcid)0000-0002-4464-9982 aut Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 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. Hereditary transthyretin amyloidosis (ATTRv) (dpeaa)DE-He213 Small fiber neuropathy (dpeaa)DE-He213 Serum neurofilaments light chain (dpeaa)DE-He213 Skin biopsy (dpeaa)DE-He213 Quantitative sensory testing (dpeaa)DE-He213 Costanzo, Rocco verfasserin aut Forcina, Francesca verfasserin aut Morino, Stefania verfasserin aut Antonini, Giovanni verfasserin aut Salvetti, Marco verfasserin aut Lauletta, Antonio verfasserin aut Luigetti, Marco verfasserin aut Romano, Angela verfasserin aut Primiano, Guido verfasserin aut Guglielmino, Valeria verfasserin aut Fionda, Laura verfasserin aut Garibaldi, Matteo verfasserin aut Esposito, Nicoletta verfasserin aut Falco, Pietro verfasserin aut di Pietro, Giuseppe verfasserin aut Truini, Andrea verfasserin aut Leonardi, Luca verfasserin aut Enthalten in Neurological sciences Springer International Publishing, 2000 45(2024), 10 vom: 03. Mai, Seite 5023-5032 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:45 year:2024 number:10 day:03 month:05 pages:5023-5032 https://dx.doi.org/10.1007/s10072-024-07562-0 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_72 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2574 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 VZ AR 45 2024 10 03 05 5023-5032 |
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10.1007/s10072-024-07562-0 doi (DE-627)SPR057438986 (SPR)s10072-024-07562-0-e DE-627 ger DE-627 rakwb eng 610 VZ 610 VZ 44.90 bkl Galosi, Eleonora verfasserin (orcid)0000-0002-4464-9982 aut Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 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. Hereditary transthyretin amyloidosis (ATTRv) (dpeaa)DE-He213 Small fiber neuropathy (dpeaa)DE-He213 Serum neurofilaments light chain (dpeaa)DE-He213 Skin biopsy (dpeaa)DE-He213 Quantitative sensory testing (dpeaa)DE-He213 Costanzo, Rocco verfasserin aut Forcina, Francesca verfasserin aut Morino, Stefania verfasserin aut Antonini, Giovanni verfasserin aut Salvetti, Marco verfasserin aut Lauletta, Antonio verfasserin aut Luigetti, Marco verfasserin aut Romano, Angela verfasserin aut Primiano, Guido verfasserin aut Guglielmino, Valeria verfasserin aut Fionda, Laura verfasserin aut Garibaldi, Matteo verfasserin aut Esposito, Nicoletta verfasserin aut Falco, Pietro verfasserin aut di Pietro, Giuseppe verfasserin aut Truini, Andrea verfasserin aut Leonardi, Luca verfasserin aut Enthalten in Neurological sciences Springer International Publishing, 2000 45(2024), 10 vom: 03. Mai, Seite 5023-5032 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:45 year:2024 number:10 day:03 month:05 pages:5023-5032 https://dx.doi.org/10.1007/s10072-024-07562-0 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_72 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2574 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 VZ AR 45 2024 10 03 05 5023-5032 |
| allfields_unstemmed |
10.1007/s10072-024-07562-0 doi (DE-627)SPR057438986 (SPR)s10072-024-07562-0-e DE-627 ger DE-627 rakwb eng 610 VZ 610 VZ 44.90 bkl Galosi, Eleonora verfasserin (orcid)0000-0002-4464-9982 aut Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 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. Hereditary transthyretin amyloidosis (ATTRv) (dpeaa)DE-He213 Small fiber neuropathy (dpeaa)DE-He213 Serum neurofilaments light chain (dpeaa)DE-He213 Skin biopsy (dpeaa)DE-He213 Quantitative sensory testing (dpeaa)DE-He213 Costanzo, Rocco verfasserin aut Forcina, Francesca verfasserin aut Morino, Stefania verfasserin aut Antonini, Giovanni verfasserin aut Salvetti, Marco verfasserin aut Lauletta, Antonio verfasserin aut Luigetti, Marco verfasserin aut Romano, Angela verfasserin aut Primiano, Guido verfasserin aut Guglielmino, Valeria verfasserin aut Fionda, Laura verfasserin aut Garibaldi, Matteo verfasserin aut Esposito, Nicoletta verfasserin aut Falco, Pietro verfasserin aut di Pietro, Giuseppe verfasserin aut Truini, Andrea verfasserin aut Leonardi, Luca verfasserin aut Enthalten in Neurological sciences Springer International Publishing, 2000 45(2024), 10 vom: 03. Mai, Seite 5023-5032 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:45 year:2024 number:10 day:03 month:05 pages:5023-5032 https://dx.doi.org/10.1007/s10072-024-07562-0 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_72 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2574 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 VZ AR 45 2024 10 03 05 5023-5032 |
| allfieldsGer |
10.1007/s10072-024-07562-0 doi (DE-627)SPR057438986 (SPR)s10072-024-07562-0-e DE-627 ger DE-627 rakwb eng 610 VZ 610 VZ 44.90 bkl Galosi, Eleonora verfasserin (orcid)0000-0002-4464-9982 aut Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 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. Hereditary transthyretin amyloidosis (ATTRv) (dpeaa)DE-He213 Small fiber neuropathy (dpeaa)DE-He213 Serum neurofilaments light chain (dpeaa)DE-He213 Skin biopsy (dpeaa)DE-He213 Quantitative sensory testing (dpeaa)DE-He213 Costanzo, Rocco verfasserin aut Forcina, Francesca verfasserin aut Morino, Stefania verfasserin aut Antonini, Giovanni verfasserin aut Salvetti, Marco verfasserin aut Lauletta, Antonio verfasserin aut Luigetti, Marco verfasserin aut Romano, Angela verfasserin aut Primiano, Guido verfasserin aut Guglielmino, Valeria verfasserin aut Fionda, Laura verfasserin aut Garibaldi, Matteo verfasserin aut Esposito, Nicoletta verfasserin aut Falco, Pietro verfasserin aut di Pietro, Giuseppe verfasserin aut Truini, Andrea verfasserin aut Leonardi, Luca verfasserin aut Enthalten in Neurological sciences Springer International Publishing, 2000 45(2024), 10 vom: 03. Mai, Seite 5023-5032 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:45 year:2024 number:10 day:03 month:05 pages:5023-5032 https://dx.doi.org/10.1007/s10072-024-07562-0 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_72 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2574 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 VZ AR 45 2024 10 03 05 5023-5032 |
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10.1007/s10072-024-07562-0 doi (DE-627)SPR057438986 (SPR)s10072-024-07562-0-e DE-627 ger DE-627 rakwb eng 610 VZ 610 VZ 44.90 bkl Galosi, Eleonora verfasserin (orcid)0000-0002-4464-9982 aut Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 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. Hereditary transthyretin amyloidosis (ATTRv) (dpeaa)DE-He213 Small fiber neuropathy (dpeaa)DE-He213 Serum neurofilaments light chain (dpeaa)DE-He213 Skin biopsy (dpeaa)DE-He213 Quantitative sensory testing (dpeaa)DE-He213 Costanzo, Rocco verfasserin aut Forcina, Francesca verfasserin aut Morino, Stefania verfasserin aut Antonini, Giovanni verfasserin aut Salvetti, Marco verfasserin aut Lauletta, Antonio verfasserin aut Luigetti, Marco verfasserin aut Romano, Angela verfasserin aut Primiano, Guido verfasserin aut Guglielmino, Valeria verfasserin aut Fionda, Laura verfasserin aut Garibaldi, Matteo verfasserin aut Esposito, Nicoletta verfasserin aut Falco, Pietro verfasserin aut di Pietro, Giuseppe verfasserin aut Truini, Andrea verfasserin aut Leonardi, Luca verfasserin aut Enthalten in Neurological sciences Springer International Publishing, 2000 45(2024), 10 vom: 03. Mai, Seite 5023-5032 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:45 year:2024 number:10 day:03 month:05 pages:5023-5032 https://dx.doi.org/10.1007/s10072-024-07562-0 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_72 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2574 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 VZ AR 45 2024 10 03 05 5023-5032 |
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Enthalten in Neurological sciences 45(2024), 10 vom: 03. Mai, Seite 5023-5032 volume:45 year:2024 number:10 day:03 month:05 pages:5023-5032 |
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Enthalten in Neurological sciences 45(2024), 10 vom: 03. Mai, Seite 5023-5032 volume:45 year:2024 number:10 day:03 month:05 pages:5023-5032 |
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findex.gbv.de |
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Hereditary transthyretin amyloidosis (ATTRv) Small fiber neuropathy Serum neurofilaments light chain Skin biopsy Quantitative sensory testing |
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Neurological sciences |
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Galosi, Eleonora @@aut@@ Costanzo, Rocco @@aut@@ Forcina, Francesca @@aut@@ Morino, Stefania @@aut@@ Antonini, Giovanni @@aut@@ Salvetti, Marco @@aut@@ Lauletta, Antonio @@aut@@ Luigetti, Marco @@aut@@ Romano, Angela @@aut@@ Primiano, Guido @@aut@@ Guglielmino, Valeria @@aut@@ Fionda, Laura @@aut@@ Garibaldi, Matteo @@aut@@ Esposito, Nicoletta @@aut@@ Falco, Pietro @@aut@@ di Pietro, Giuseppe @@aut@@ Truini, Andrea @@aut@@ Leonardi, Luca @@aut@@ |
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2024-05-03T00:00:00Z |
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3610 |
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SPR057438986 |
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englisch |
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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). 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|
| author |
Galosi, Eleonora |
| spellingShingle |
Galosi, Eleonora ddc 610 bkl 44.90 misc Hereditary transthyretin amyloidosis (ATTRv) misc Small fiber neuropathy misc Serum neurofilaments light chain misc Skin biopsy misc Quantitative sensory testing 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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Galosi, Eleonora |
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electronic Article |
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610 - Medicine & health |
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1590-3478 |
| topic_title |
610 VZ 44.90 bkl Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) Hereditary transthyretin amyloidosis (ATTRv) (dpeaa)DE-He213 Small fiber neuropathy (dpeaa)DE-He213 Serum neurofilaments light chain (dpeaa)DE-He213 Skin biopsy (dpeaa)DE-He213 Quantitative sensory testing (dpeaa)DE-He213 |
| topic |
ddc 610 bkl 44.90 misc Hereditary transthyretin amyloidosis (ATTRv) misc Small fiber neuropathy misc Serum neurofilaments light chain misc Skin biopsy misc Quantitative sensory testing |
| topic_unstemmed |
ddc 610 bkl 44.90 misc Hereditary transthyretin amyloidosis (ATTRv) misc Small fiber neuropathy misc Serum neurofilaments light chain misc Skin biopsy misc Quantitative sensory testing |
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ddc 610 bkl 44.90 misc Hereditary transthyretin amyloidosis (ATTRv) misc Small fiber neuropathy misc Serum neurofilaments light chain misc Skin biopsy misc Quantitative sensory testing |
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Neurological sciences |
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300187025 |
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Neurological sciences |
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(DE-627)300187025 (DE-600)1481772-X |
| title |
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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(DE-627)SPR057438986 (SPR)s10072-024-07562-0-e |
| title_full |
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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Galosi, Eleonora |
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Neurological sciences |
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Neurological sciences |
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eng |
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600 - Technology |
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2024 |
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5023 |
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Galosi, Eleonora Costanzo, Rocco Forcina, Francesca Morino, Stefania Antonini, Giovanni Salvetti, Marco Lauletta, Antonio Luigetti, Marco Romano, Angela Primiano, Guido Guglielmino, Valeria Fionda, Laura Garibaldi, Matteo Esposito, Nicoletta Falco, Pietro di Pietro, Giuseppe Truini, Andrea Leonardi, Luca |
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610 VZ 44.90 bkl |
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Elektronische Aufsätze |
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Galosi, Eleonora |
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10.1007/s10072-024-07562-0 |
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(ORCID)0000-0002-4464-9982 |
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(orcid)0000-0002-4464-9982 |
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610 |
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verfasserin |
| title_sort |
serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (attrv-pn) |
| title_auth |
Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) |
| 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. © The Author(s) 2024 |
| abstractGer |
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. © The Author(s) 2024 |
| abstract_unstemmed |
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. © The Author(s) 2024 |
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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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https://dx.doi.org/10.1007/s10072-024-07562-0 |
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Costanzo, Rocco Forcina, Francesca Morino, Stefania Antonini, Giovanni Salvetti, Marco Lauletta, Antonio Luigetti, Marco Romano, Angela Primiano, Guido Guglielmino, Valeria Fionda, Laura Garibaldi, Matteo Esposito, Nicoletta Falco, Pietro di Pietro, Giuseppe Truini, Andrea Leonardi, Luca |
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Costanzo, Rocco Forcina, Francesca Morino, Stefania Antonini, Giovanni Salvetti, Marco Lauletta, Antonio Luigetti, Marco Romano, Angela Primiano, Guido Guglielmino, Valeria Fionda, Laura Garibaldi, Matteo Esposito, Nicoletta Falco, Pietro di Pietro, Giuseppe Truini, Andrea Leonardi, Luca |
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10.1007/s10072-024-07562-0 |
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2024-09-25T04:53:40.688Z |
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| score |
7.4008274 |