Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD)
- Autores
- Dardis, Andrea; Pavan, Eleonora; Fabris, Martina; Da Riol, Rosalia Maria; Sechi, Annalisa; Fiumara, Agata; Santoro, Lucia; Ormazabal, Maximiliano Emanuel; Milanic, Romina; Zampieri, Stefania; Biasizzo, Jessica; Scarpa, Maurizio
- Año de publicación
- 2021
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Background: Niemann–Pick type C disease (NPCD) is an autosomal recessive lysoso-mal storage disorder caused by mutations in the NPC1 or NPC2 genes. The clinical presentation is characterized by visceral and neurological involvement. Apart from a small group of patients pre-senting a severe perinatal form, all patients develop progressive and fatal neurological disease with an extremely variable age of onset. Different biomarkers have been identified; however, they poorly correlate with neurological disease. In this study we assessed the possible role of plasma NfL as a neurological disease-associated biomarker in NPCD. (2) Methods: Plasma NfL levels were measured in 75 healthy controls and 26 patients affected by NPCD (24 NPC1 and 2 NPC2; 39 samples). (3) Results: Plasma NfL levels in healthy controls correlated with age and were significantly lower in pediatric patients as compared to adult subjects (p = 0.0017). In both pediatric and adult NPCD patients, the plasma levels of NfL were significantly higher than in age-matched controls (p < 0.0001). Most importantly, plasma NfL levels in NPCD patients with neurological involvement were significantly higher than the levels found in patients free of neurological signs at the time of sam-pling, both in the pediatric and the adult group (p = 0.0076; p = 0.0032, respectively). Furthermore, in adults the NfL levels in non-neurological patients were comparable with those found in age-matched controls. No correlations between plasma NfL levels and NPCD patient age at sampling or plasma levels of cholestan 3β-5α-6β-triol were found. (4) Conclusions: These data suggest a promising role of plasma NfL as a possible neurological disease-associated biomarker in NPCD.
Fil: Dardis, Andrea. University Hospital of Udine; Italia
Fil: Pavan, Eleonora. University Hospital of Udine; Italia
Fil: Fabris, Martina. University Hospital of Udine; Italia
Fil: Da Riol, Rosalia Maria. University Hospital of Udine; Italia
Fil: Sechi, Annalisa. University Hospital of Udine; Italia
Fil: Fiumara, Agata. University of Catania; Italia
Fil: Santoro, Lucia. Polytechnic University of Marche; Italia
Fil: Ormazabal, Maximiliano Emanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Fil: Milanic, Romina. University Hospital of Udine; Italia
Fil: Zampieri, Stefania. University Hospital of Udine; Italia
Fil: Biasizzo, Jessica. University Hospital of Udine; Italia
Fil: Scarpa, Maurizio. University Hospital of Udine; Italia - Materia
-
BIOMARKERS
NEUROFILAMENT LIGHT
NEUROLOGICAL DISEASE
NIEMANN–PICK C - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/211837
Ver los metadatos del registro completo
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Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD)Dardis, AndreaPavan, EleonoraFabris, MartinaDa Riol, Rosalia MariaSechi, AnnalisaFiumara, AgataSantoro, LuciaOrmazabal, Maximiliano EmanuelMilanic, RominaZampieri, StefaniaBiasizzo, JessicaScarpa, MaurizioBIOMARKERSNEUROFILAMENT LIGHTNEUROLOGICAL DISEASENIEMANN–PICK Chttps://purl.org/becyt/ford/3.5https://purl.org/becyt/ford/3Background: Niemann–Pick type C disease (NPCD) is an autosomal recessive lysoso-mal storage disorder caused by mutations in the NPC1 or NPC2 genes. The clinical presentation is characterized by visceral and neurological involvement. Apart from a small group of patients pre-senting a severe perinatal form, all patients develop progressive and fatal neurological disease with an extremely variable age of onset. Different biomarkers have been identified; however, they poorly correlate with neurological disease. In this study we assessed the possible role of plasma NfL as a neurological disease-associated biomarker in NPCD. (2) Methods: Plasma NfL levels were measured in 75 healthy controls and 26 patients affected by NPCD (24 NPC1 and 2 NPC2; 39 samples). (3) Results: Plasma NfL levels in healthy controls correlated with age and were significantly lower in pediatric patients as compared to adult subjects (p = 0.0017). In both pediatric and adult NPCD patients, the plasma levels of NfL were significantly higher than in age-matched controls (p < 0.0001). Most importantly, plasma NfL levels in NPCD patients with neurological involvement were significantly higher than the levels found in patients free of neurological signs at the time of sam-pling, both in the pediatric and the adult group (p = 0.0076; p = 0.0032, respectively). Furthermore, in adults the NfL levels in non-neurological patients were comparable with those found in age-matched controls. No correlations between plasma NfL levels and NPCD patient age at sampling or plasma levels of cholestan 3β-5α-6β-triol were found. (4) Conclusions: These data suggest a promising role of plasma NfL as a possible neurological disease-associated biomarker in NPCD.Fil: Dardis, Andrea. University Hospital of Udine; ItaliaFil: Pavan, Eleonora. University Hospital of Udine; ItaliaFil: Fabris, Martina. University Hospital of Udine; ItaliaFil: Da Riol, Rosalia Maria. University Hospital of Udine; ItaliaFil: Sechi, Annalisa. University Hospital of Udine; ItaliaFil: Fiumara, Agata. University of Catania; ItaliaFil: Santoro, Lucia. Polytechnic University of Marche; ItaliaFil: Ormazabal, Maximiliano Emanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Milanic, Romina. University Hospital of Udine; ItaliaFil: Zampieri, Stefania. University Hospital of Udine; ItaliaFil: Biasizzo, Jessica. University Hospital of Udine; ItaliaFil: Scarpa, Maurizio. University Hospital of Udine; ItaliaMDPI2021-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/211837Dardis, Andrea; Pavan, Eleonora; Fabris, Martina; Da Riol, Rosalia Maria; Sechi, Annalisa; et al.; Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD); MDPI; Journal of Clinical Medicine; 10; 20; 10-2021; 1-102077-0383CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.3390/jcm10204796info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:40:41Zoai:ri.conicet.gov.ar:11336/211837instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:40:41.552CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD) |
title |
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD) |
spellingShingle |
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD) Dardis, Andrea BIOMARKERS NEUROFILAMENT LIGHT NEUROLOGICAL DISEASE NIEMANN–PICK C |
title_short |
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD) |
title_full |
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD) |
title_fullStr |
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD) |
title_full_unstemmed |
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD) |
title_sort |
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD) |
dc.creator.none.fl_str_mv |
Dardis, Andrea Pavan, Eleonora Fabris, Martina Da Riol, Rosalia Maria Sechi, Annalisa Fiumara, Agata Santoro, Lucia Ormazabal, Maximiliano Emanuel Milanic, Romina Zampieri, Stefania Biasizzo, Jessica Scarpa, Maurizio |
author |
Dardis, Andrea |
author_facet |
Dardis, Andrea Pavan, Eleonora Fabris, Martina Da Riol, Rosalia Maria Sechi, Annalisa Fiumara, Agata Santoro, Lucia Ormazabal, Maximiliano Emanuel Milanic, Romina Zampieri, Stefania Biasizzo, Jessica Scarpa, Maurizio |
author_role |
author |
author2 |
Pavan, Eleonora Fabris, Martina Da Riol, Rosalia Maria Sechi, Annalisa Fiumara, Agata Santoro, Lucia Ormazabal, Maximiliano Emanuel Milanic, Romina Zampieri, Stefania Biasizzo, Jessica Scarpa, Maurizio |
author2_role |
author author author author author author author author author author author |
dc.subject.none.fl_str_mv |
BIOMARKERS NEUROFILAMENT LIGHT NEUROLOGICAL DISEASE NIEMANN–PICK C |
topic |
BIOMARKERS NEUROFILAMENT LIGHT NEUROLOGICAL DISEASE NIEMANN–PICK C |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.5 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
Background: Niemann–Pick type C disease (NPCD) is an autosomal recessive lysoso-mal storage disorder caused by mutations in the NPC1 or NPC2 genes. The clinical presentation is characterized by visceral and neurological involvement. Apart from a small group of patients pre-senting a severe perinatal form, all patients develop progressive and fatal neurological disease with an extremely variable age of onset. Different biomarkers have been identified; however, they poorly correlate with neurological disease. In this study we assessed the possible role of plasma NfL as a neurological disease-associated biomarker in NPCD. (2) Methods: Plasma NfL levels were measured in 75 healthy controls and 26 patients affected by NPCD (24 NPC1 and 2 NPC2; 39 samples). (3) Results: Plasma NfL levels in healthy controls correlated with age and were significantly lower in pediatric patients as compared to adult subjects (p = 0.0017). In both pediatric and adult NPCD patients, the plasma levels of NfL were significantly higher than in age-matched controls (p < 0.0001). Most importantly, plasma NfL levels in NPCD patients with neurological involvement were significantly higher than the levels found in patients free of neurological signs at the time of sam-pling, both in the pediatric and the adult group (p = 0.0076; p = 0.0032, respectively). Furthermore, in adults the NfL levels in non-neurological patients were comparable with those found in age-matched controls. No correlations between plasma NfL levels and NPCD patient age at sampling or plasma levels of cholestan 3β-5α-6β-triol were found. (4) Conclusions: These data suggest a promising role of plasma NfL as a possible neurological disease-associated biomarker in NPCD. Fil: Dardis, Andrea. University Hospital of Udine; Italia Fil: Pavan, Eleonora. University Hospital of Udine; Italia Fil: Fabris, Martina. University Hospital of Udine; Italia Fil: Da Riol, Rosalia Maria. University Hospital of Udine; Italia Fil: Sechi, Annalisa. University Hospital of Udine; Italia Fil: Fiumara, Agata. University of Catania; Italia Fil: Santoro, Lucia. Polytechnic University of Marche; Italia Fil: Ormazabal, Maximiliano Emanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina Fil: Milanic, Romina. University Hospital of Udine; Italia Fil: Zampieri, Stefania. University Hospital of Udine; Italia Fil: Biasizzo, Jessica. University Hospital of Udine; Italia Fil: Scarpa, Maurizio. University Hospital of Udine; Italia |
description |
Background: Niemann–Pick type C disease (NPCD) is an autosomal recessive lysoso-mal storage disorder caused by mutations in the NPC1 or NPC2 genes. The clinical presentation is characterized by visceral and neurological involvement. Apart from a small group of patients pre-senting a severe perinatal form, all patients develop progressive and fatal neurological disease with an extremely variable age of onset. Different biomarkers have been identified; however, they poorly correlate with neurological disease. In this study we assessed the possible role of plasma NfL as a neurological disease-associated biomarker in NPCD. (2) Methods: Plasma NfL levels were measured in 75 healthy controls and 26 patients affected by NPCD (24 NPC1 and 2 NPC2; 39 samples). (3) Results: Plasma NfL levels in healthy controls correlated with age and were significantly lower in pediatric patients as compared to adult subjects (p = 0.0017). In both pediatric and adult NPCD patients, the plasma levels of NfL were significantly higher than in age-matched controls (p < 0.0001). Most importantly, plasma NfL levels in NPCD patients with neurological involvement were significantly higher than the levels found in patients free of neurological signs at the time of sam-pling, both in the pediatric and the adult group (p = 0.0076; p = 0.0032, respectively). Furthermore, in adults the NfL levels in non-neurological patients were comparable with those found in age-matched controls. No correlations between plasma NfL levels and NPCD patient age at sampling or plasma levels of cholestan 3β-5α-6β-triol were found. (4) Conclusions: These data suggest a promising role of plasma NfL as a possible neurological disease-associated biomarker in NPCD. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-10 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/211837 Dardis, Andrea; Pavan, Eleonora; Fabris, Martina; Da Riol, Rosalia Maria; Sechi, Annalisa; et al.; Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD); MDPI; Journal of Clinical Medicine; 10; 20; 10-2021; 1-10 2077-0383 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/211837 |
identifier_str_mv |
Dardis, Andrea; Pavan, Eleonora; Fabris, Martina; Da Riol, Rosalia Maria; Sechi, Annalisa; et al.; Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD); MDPI; Journal of Clinical Medicine; 10; 20; 10-2021; 1-10 2077-0383 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.3390/jcm10204796 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
MDPI |
publisher.none.fl_str_mv |
MDPI |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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1844614435829710848 |
score |
13.070432 |