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Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients.

Journal article
Authors Kalliopi Sofou
Pashtun Shahim
Mar Tulinius
Kaj Blennow
Henrik Zetterberg
Niklas Mattsson
Niklas Darin
Published in Mitochondrion
Volume 46
Pages 228-235
ISSN 1872-8278
Publication year 2019
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Institute of Clinical Sciences, Department of Pediatrics
Pages 228-235
Language en
Subject categories Neurochemistry


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.

Page Manager: Webmaster|Last update: 9/11/2012

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