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Levels of the light subunit of neurofilament triplet protein in cerebrospinal fluid in Huntington's disease
Authors:Radu Constantinescu  Megan Romer  David Oakes  Lars Rosengren  Karl Kieburtz
Affiliation:1. Department of Neurology, Sahlgrenska University Hospital, 413 45 Göteborg, Sweden;2. University of Rochester, Department of Neurology, Rochester, NY, USA;3. University of Rochester, Department of Biostatistics and Computational Biology, Rochester, NY, USA;1. Department of Neurosurgery, Athens University Medical School, Athens, Greece;2. Hellenic Centre for Neurosurgery Research “Professor Petros S. Kokkalis”, Athens, Greece;3. Department of Neurology, Eginition Hospital, Athens University Medical School, Athens, Greece;1. UCL Institute of Neurology, University College London, London, UK;2. Department of Genetics and Cytogenetics, and INSERM UMR S679, APHP, ICM Institute, Hôpital de la Salpêtrière, Paris, France;3. Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada;4. Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands;5. CHDI Management/CHDI Foundation, Princeton, NJ, USA;6. Department of Neurology, Ulm University, Ulm, Germany;7. London School of Hygiene and Tropical Medicine, London, UK;8. Department of Psychiatry, University of Iowa, Iowa City, IA, USA;9. Department of Biostatistics, University of Iowa, Iowa City, IA, USA;10. University of Manchester, Manchester Academic Health Sciences Centre, Manchester, UK;11. Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK;12. Department of Neurology, University of Münster, Münster, Germany;13. School of Psychology and Psychiatry, Monash University, Melbourne, VIC, Australia
Abstract:BackgroundNeurofilaments are major structural elements of neuronal cells. The light subunit of neurofilament triplet protein (NFL) has been shown to be increased in several neurological diseases (e.g. vascular, infectious, neurodegenerative), indicating axonal damage.MethodsIn this study we analyzed the NFL levels in all (N = 35) available cerebrospinal fluid (CSF) samples from a clinical trial in Huntington's disease (HD) and compared them to age and gender matched controls.ResultsThe CSF–NFL levels were significantly higher in HD subjects compared with age and genders matched controls, and were correlated with scores on the Unified Huntington's Disease Rating Scale Total Functional Capacity assessment. The potential of CSF–NFL levels as a disease activity marker in HD needs to be further investigated.
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