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Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal

Eratne, Dhamidhu ; Lewis, Courtney ; Kelso, Wendy ; Loi, Samantha ; Chiu, Wei Hsuan Michelle Ms ; Blennow, Kaj LU ; Zetterberg, Henrik LU ; Santillo, Alexander F. LU orcid ; Velakoulis, Dennis and Walterfang, Mark (2024) In Acta Neuropsychiatrica p.1-6
Abstract

OBJECTIVE: Niemann-Pick Type C (NPC) is a genetic neurodegenerative lysosomal storage disorder commonly associated with psychiatric symptoms and delays to accurate diagnosis and treatment. This study investigated biomarker levels and diagnostic utility of plasma neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) in NPC compared to healthy controls. METHODS: Patients with NPC were recruited from a specialist assessment and management service. Data was available from an age and sex-matched healthy control group. NfL and GFAP were measured on Quanterix Simoa HD-X analysers and groups compared using generalised linear models. NfL levels were compared to, and percentiles derived from, recently developed NfL reference... (More)

OBJECTIVE: Niemann-Pick Type C (NPC) is a genetic neurodegenerative lysosomal storage disorder commonly associated with psychiatric symptoms and delays to accurate diagnosis and treatment. This study investigated biomarker levels and diagnostic utility of plasma neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) in NPC compared to healthy controls. METHODS: Patients with NPC were recruited from a specialist assessment and management service. Data was available from an age and sex-matched healthy control group. NfL and GFAP were measured on Quanterix Simoa HD-X analysers and groups compared using generalised linear models. NfL levels were compared to, and percentiles derived from, recently developed NfL reference ranges. RESULTS: Plasma NfL was significantly elevated in 11 patients with NPC compared to 25 controls (mean 17.1pg/mL vs 7.4pg/mL, p<0.001), and reference ranges (all >98th percentile). NfL distinguished NPC from controls with high accuracy. GFAP levels were not elevated in NPC (66.6pg/mL vs 75.1pg/mL). DISCUSSION: The study adds important evidence on the potential diagnostic utility of plasma NfL in NPC, extends the literature of NfL as a diagnostic tool to differentiate neurodegenerative from primary psychiatric disorders, and adds support to the pathology in NPC primarily involving neuronal, particularly axonal, degeneration.

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author
; ; ; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
epub
subject
keywords
diagnosis, GFAP, glial fibrillary acidic protein, neurofilament light, NfL, Niemann-Pick Type C
in
Acta Neuropsychiatrica
pages
1 - 6
publisher
Cambridge University Press
external identifiers
  • pmid:38533577
  • scopus:85189702274
ISSN
0924-2708
DOI
10.1017/neu.2024.14
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2024 Cambridge University Press. All rights reserved.
id
112af6d2-1109-4701-af9d-533f2a09b7d5
date added to LUP
2024-04-15 19:26:05
date last changed
2024-04-29 21:19:22
@article{112af6d2-1109-4701-af9d-533f2a09b7d5,
  abstract     = {{<p>OBJECTIVE: Niemann-Pick Type C (NPC) is a genetic neurodegenerative lysosomal storage disorder commonly associated with psychiatric symptoms and delays to accurate diagnosis and treatment. This study investigated biomarker levels and diagnostic utility of plasma neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) in NPC compared to healthy controls. METHODS: Patients with NPC were recruited from a specialist assessment and management service. Data was available from an age and sex-matched healthy control group. NfL and GFAP were measured on Quanterix Simoa HD-X analysers and groups compared using generalised linear models. NfL levels were compared to, and percentiles derived from, recently developed NfL reference ranges. RESULTS: Plasma NfL was significantly elevated in 11 patients with NPC compared to 25 controls (mean 17.1pg/mL vs 7.4pg/mL, p&lt;0.001), and reference ranges (all &gt;98<sup>th</sup> percentile). NfL distinguished NPC from controls with high accuracy. GFAP levels were not elevated in NPC (66.6pg/mL vs 75.1pg/mL). DISCUSSION: The study adds important evidence on the potential diagnostic utility of plasma NfL in NPC, extends the literature of NfL as a diagnostic tool to differentiate neurodegenerative from primary psychiatric disorders, and adds support to the pathology in NPC primarily involving neuronal, particularly axonal, degeneration.</p>}},
  author       = {{Eratne, Dhamidhu and Lewis, Courtney and Kelso, Wendy and Loi, Samantha and Chiu, Wei Hsuan Michelle Ms and Blennow, Kaj and Zetterberg, Henrik and Santillo, Alexander F. and Velakoulis, Dennis and Walterfang, Mark}},
  issn         = {{0924-2708}},
  keywords     = {{diagnosis; GFAP; glial fibrillary acidic protein; neurofilament light; NfL; Niemann-Pick Type C}},
  language     = {{eng}},
  pages        = {{1--6}},
  publisher    = {{Cambridge University Press}},
  series       = {{Acta Neuropsychiatrica}},
  title        = {{Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal}},
  url          = {{http://dx.doi.org/10.1017/neu.2024.14}},
  doi          = {{10.1017/neu.2024.14}},
  year         = {{2024}},
}