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
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/211837
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/211837
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling 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 Técnicas2025-10-15T15:38:33Zoai: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:34982025-10-15 15:38:33.327CONICET 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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score 13.22299

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