title: Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis.
abstract: Neurofilaments are elevated in the cerebrospinal fluid (CSF) and serum of amyotrophic lateral sclerosis (ALS) patients. However, timing of this increase is unknown. To characterize the premanifest disease phase, we performed a cross-sectional study on asymptomatic (n = 12) and symptomatic (n = 64) ALS mutation carriers and family controls (n = 19). Neurofilaments NF-L (neurofilament-light chain) and pNF-H (phosphorylated neurofilament-heavy chain) are normal before symptom onset and increased by at least an order of magnitude at early symptom onset in CSF (pNF-H) or serum and CSF (NF-L). Thus, blood and CSF neurofilament levels are linked to the symptomatic phase of ALS and might serve as objective markers of structural damage to the nervous system.
authors.affiliation: Department of Neurology, Ulm University, Ulm, Germany.
authors.forename: Patrick
authors.initials: P
authors.lastname: Weydt
authors.affiliation: Department of Neurology, Ulm University, Ulm, Germany.
authors.forename: Patrick
authors.initials: P
authors.lastname: Oeckl
authors.affiliation: Department of Neurology, Ulm University, Ulm, Germany.
authors.forename: André
authors.initials: A
authors.lastname: Huss
authors.affiliation: Department of Neurology, Ulm University, Ulm, Germany.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Müller
authors.affiliation: Institute for Human Genetics, Ulm University, Ulm, Germany.|Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Alexander E
authors.initials: AE
authors.lastname: Volk
authors.affiliation: Neurology, Departments of Medicine and Biomedicine, University Hospital Basel, Basel, Switzerland.
authors.forename: Jens
authors.initials: J
authors.lastname: Kuhle
authors.affiliation: Department of Neurology, Ulm University, Ulm, Germany.
authors.forename: Antje
authors.initials: A
authors.lastname: Knehr
authors.affiliation: Department of Neurology, Ulm University, Ulm, Germany.|Department of Pharmacology and Clinical Neurosiences, Umeå University, Umeå, Sweden.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Andersen
authors.affiliation: Department of Neurology, University of Rostock, Rostock, Germany.
authors.forename: Johannes
authors.initials: J
authors.lastname: Prudlo
authors.affiliation: Department of Neurology, Ulm University, Ulm, Germany.
authors.forename: Petra
authors.initials: P
authors.lastname: Steinacker
authors.affiliation: Department of Neurology, Ulm University, Ulm, Germany.
authors.forename: Jochen H
authors.initials: JH
authors.lastname: Weishaupt
authors.affiliation: Department of Neurology, Ulm University, Ulm, Germany.
authors.forename: Albert C
authors.initials: AC
authors.lastname: Ludolph
authors.affiliation: Department of Neurology, Ulm University, Ulm, Germany.
authors.forename: Markus
authors.initials: M
authors.lastname: Otto
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000097:blood* / Q000134:cerebrospinal fluid*; D015415:Biomarkers / Q000097:blood / Q000134:cerebrospinal fluid; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D016900:Neurofilament Proteins / Q000097:blood* / Q000134:cerebrospinal fluid*
chemical_list: D015415:Biomarkers; D016900:Neurofilament Proteins; C044882:neurofilament protein L; C051774:neurofilament protein H