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Abstract
Cerebrospinal fluid (CSF) biomarkers are useful in the diagnosis and the prediction of progression of several neurodegenerative diseases. Among them, CSF neurofilament light (NfL) protein has particular interest, as its levels reflect neuroaxonal degeneration, a common feature in various neurodegenerative diseases. In the present study, we analyzed NfL levels in the CSF of 535 participants of the SPIN (Sant Pau Initiative on Neurodegeneration) cohort including cognitively normal participants, patients with Alzheimer disease (AD), Down syndrome (DS), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). We evaluated the differences in CSF NfL accross groups and its association with other CSF biomarkers and with cognitive scales. All neurogenerative diseases showed increased levels of CSF NfL, with the highest levels in patients with ALS, FTD, CBS and PSP. Furthermore, we found an association of CSF NfL levels with cognitive impairment in patients within the AD and FTD spectrum and with AD pathology in DLB and DS patients. These results have implications for the use of NfL as a marker in neurodegenerative diseases.
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1 Université de Montpellier, CHU de Montpellier, Laboratoire de Biochimie-Protéomique clinique, Montpellier, France; Department of Neurology, Sant Pau Memory Unit, Hospital de la Santa Creu i Sant Pau - IIB Sant Pau, Barcelona, Spain (GRID:grid.413396.a) (ISNI:0000 0004 1768 8905)
2 Department of Neurology, Sant Pau Memory Unit, Hospital de la Santa Creu i Sant Pau - IIB Sant Pau, Barcelona, Spain (GRID:grid.413396.a) (ISNI:0000 0004 1768 8905); Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas, Ciberned, Spain (GRID:grid.413396.a)
3 Department of Neurology, Sant Pau Memory Unit, Hospital de la Santa Creu i Sant Pau - IIB Sant Pau, Barcelona, Spain (GRID:grid.413396.a) (ISNI:0000 0004 1768 8905); Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas, Ciberned, Spain (GRID:grid.413396.a); Barcelona Down Medical Center, Fundació Catalana Síndrome de Down, Barcelona, Spain (GRID:grid.413396.a)
4 Universitat Autònoma de Barcelona, Department of Neurology, Neuromuscular Diseases Unit, MND Clinic, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Barcelona, Spain (GRID:grid.7080.f); Centro de Investigación Biomédica en Red en Enfermedades Raras, Ciberer, Spain (GRID:grid.452372.5) (ISNI:0000 0004 1791 1185)
5 Université de Montpellier, CHU de Montpellier, Laboratoire de Biochimie-Protéomique clinique, Montpellier, France (GRID:grid.413396.a)
6 Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas, Ciberned, Spain (GRID:grid.413396.a); Department of Neurology, Movement Disorders Unit, Hospital de la Santa Creu i Sant Pau - IIB Sant Pau, Barcelona, Spain (GRID:grid.413396.a) (ISNI:0000 0004 1768 8905)