Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis.

Weydt P; Oeckl P; Huss A; Müller K; Volk AE; Kuhle J; Knehr A; Andersen PM; Prudlo J; Steinacker P; Weishaupt JH; Ludolph AC; Otto M

doi:10.1002/ana.24552

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Journal article

Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis.

Weydt P Department of Neurology, Ulm University, Ulm, Germany.
Oeckl P Department of Neurology, Ulm University, Ulm, Germany.
Huss A Department of Neurology, Ulm University, Ulm, Germany.
Müller K Department of Neurology, Ulm University, Ulm, Germany.
Volk AE Institute for Human Genetics, Ulm University, Ulm, Germany.
Kuhle J Neurology, Departments of Medicine and Biomedicine, University Hospital Basel, Basel, Switzerland.
Knehr A Department of Neurology, Ulm University, Ulm, Germany.
Andersen PM Department of Neurology, Ulm University, Ulm, Germany.
Prudlo J Department of Neurology, University of Rostock, Rostock, Germany.
Steinacker P Department of Neurology, Ulm University, Ulm, Germany.
Weishaupt JH Department of Neurology, Ulm University, Ulm, Germany.
Ludolph AC Department of Neurology, Ulm University, Ulm, Germany.
Otto M Department of Neurology, Ulm University, Ulm, Germany.

2015-11-04

Published in:

Annals of neurology. - 2016

English 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.

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