Sofou, K;
Shahim, P;
Tulinius, M;
Blennow, K;
Zetterberg, H;
Mattsson, N;
Darin, N;
(2018)
Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients.
Mitochondrion
10.1016/j.mito.2018.07.002.
(In press).
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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 the neurodegenerative process in mitochondrial disease.
| Type: | Article |
|---|---|
| Title: | Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients |
| Location: | Netherlands |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.mito.2018.07.002 |
| Publisher version: | https://doi.org/10.1016/j.mito.2018.07.002 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Mitochondrial disease, Biomarker, Neurofilament, Cerebrospinal, Neuroimaging, Neurodegenerative |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10064483 |
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