Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients
Sofou, Kalliopi ; Shahim, Pashtun ; Tulinius, Már ; Blennow, Kaj LU ; Zetterberg, Henrik LU ; Mattsson, Niklas LU
and Darin, Niklas
(2019)
In Mitochondrion
46.
p.228-235
- Abstract
We studied the biomarker patterns related to axonal injury, astrogliosis and amyloid metabolism in cerebrospinal fluid (CSF) of children and adolescents with mitochondrial encephalopathy and identified correlations with phenotype and survival outcome. Forty-six pediatric patients with genetically verified mitochondrial encephalopathy and twenty-two controls investigated at the Queen Silvia Children's Hospital, Sweden, were included. CSF lactate and neurofilament light (NF-L) were significantly increased in patients with mitochondrial encephalopathy compared to controls. Elevated CSF NF-L was associated with abnormal brain MRI and poorer survival. We suggest that CSF NF-L may be used in both clinical and research settings for monitoring... (More)
We studied the biomarker patterns related to axonal injury, astrogliosis and amyloid metabolism in cerebrospinal fluid (CSF) of children and adolescents with mitochondrial encephalopathy and identified correlations with phenotype and survival outcome. Forty-six pediatric patients with genetically verified mitochondrial encephalopathy and twenty-two controls investigated at the Queen Silvia Children's Hospital, Sweden, were included. CSF lactate and neurofilament light (NF-L) were significantly increased in patients with mitochondrial encephalopathy compared to controls. Elevated CSF NF-L was associated with abnormal brain MRI and poorer survival. We suggest that CSF NF-L may be used in both clinical and research settings for monitoring the neurodegenerative process in mitochondrial disease.
(Less)
- author
- Sofou, Kalliopi
; Shahim, Pashtun
; Tulinius, Már
; Blennow, Kaj
LU
; Zetterberg, Henrik
LU
; Mattsson, Niklas
LU
and Darin, Niklas
- organization
- publishing date
- 2019
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Biomarker, Cerebrospinal, Mitochondrial disease, Neurodegenerative, Neurofilament, Neuroimaging
- in
- Mitochondrion
- volume
- 46
- pages
- 228 - 235
- publisher
- Elsevier
- external identifiers
-
- scopus:85049865213
- pmid:30004022
- ISSN
- 1567-7249
- DOI
- 10.1016/j.mito.2018.07.002
- language
- English
- LU publication?
- yes
- id
- da1c5f7d-2518-4808-94d2-91b1e48e43d8
- date added to LUP
- 2018-07-31 10:48:49
- date last changed
- 2024-04-15 09:44:11
@article{da1c5f7d-2518-4808-94d2-91b1e48e43d8,
abstract = {{<p>We studied the biomarker patterns related to axonal injury, astrogliosis and amyloid metabolism in cerebrospinal fluid (CSF) of children and adolescents with mitochondrial encephalopathy and identified correlations with phenotype and survival outcome. Forty-six pediatric patients with genetically verified mitochondrial encephalopathy and twenty-two controls investigated at the Queen Silvia Children's Hospital, Sweden, were included. CSF lactate and neurofilament light (NF-L) were significantly increased in patients with mitochondrial encephalopathy compared to controls. Elevated CSF NF-L was associated with abnormal brain MRI and poorer survival. We suggest that CSF NF-L may be used in both clinical and research settings for monitoring the neurodegenerative process in mitochondrial disease.</p>}},
author = {{Sofou, Kalliopi and Shahim, Pashtun and Tulinius, Már and Blennow, Kaj and Zetterberg, Henrik and Mattsson, Niklas and Darin, Niklas}},
issn = {{1567-7249}},
keywords = {{Biomarker; Cerebrospinal; Mitochondrial disease; Neurodegenerative; Neurofilament; Neuroimaging}},
language = {{eng}},
pages = {{228--235}},
publisher = {{Elsevier}},
series = {{Mitochondrion}},
title = {{Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients}},
url = {{http://dx.doi.org/10.1016/j.mito.2018.07.002}},
doi = {{10.1016/j.mito.2018.07.002}},
volume = {{46}},
year = {{2019}},
}