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

Kalliopi Sofou; Pashtun Shahim; Már Tulinius; Kaj Blennow; Henrik Zetterberg; Niklas Mattsson; Niklas Darin

doi:10.1016/j.mito.2018.07.002

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

Mitochondrion. 2019 May:46:228-235. doi: 10.1016/j.mito.2018.07.002. Epub 2018 Jul 9.

Authors

Kalliopi Sofou¹, Pashtun Shahim², Már Tulinius³, Kaj Blennow⁴, Henrik Zetterberg⁵, Niklas Mattsson⁶, Niklas Darin³

Affiliations

¹ Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, Gothenburg, Sweden. Electronic address: kalliopi.sofou@vgregion.se.
² Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden. Electronic address: kalliopi.sofou@vgregion.se.
³ Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, Gothenburg, Sweden.
⁴ Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.
⁵ Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK; UK Dementia Research Institute at UCL, London, UK.
⁶ Clinical Memory Research Unit, Lund University, Malmö, Sweden; Lund University, Skåne University Hospital, Department of Clinical Sciences, Neurology, Lund, Sweden.

PMID: 30004022
DOI: 10.1016/j.mito.2018.07.002

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.

Keywords: Biomarker; Cerebrospinal; Mitochondrial disease; Neurodegenerative; Neurofilament; Neuroimaging.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Brain / diagnostic imaging
Brain / pathology
Cerebrospinal Fluid / chemistry*
Child
Child, Preschool
Cross-Sectional Studies
Female
Humans
Infant
Magnetic Resonance Imaging
Male
Mitochondrial Encephalomyopathies / diagnosis*
Mitochondrial Encephalomyopathies / mortality
Mitochondrial Encephalomyopathies / pathology*
Neurofilament Proteins / analysis*
Prognosis
Survival Analysis
Sweden

Substances

Neurofilament Proteins
neurofilament protein L

Supplementary concepts

Mitochondrial encephalopathy