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

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. Ann Neurol 2015

Source: Annals of Neurology - December 17, 2015 Category: Neurology Authors: Patrick Weydt, Patrick Oeckl, André Huss, Kathrin Müller, Alexander E. Volk, Jens Kuhle, Antje Knehr, Peter M. Andersen, Johannes Prudlo, Petra Steinacker, Jochen H. Weishaupt, Albert C. Ludolph, Markus Otto Tags: Brief Communication Source Type: research