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Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis
Author(s) -
Weydt Patrick,
Oeckl Patrick,
Huss André,
Müller Kathrin,
Volk Alexander E.,
Kuhle Jens,
Knehr Antje,
Andersen Peter M.,
Prudlo Johannes,
Steinacker Petra,
Weishaupt Jochen H.,
Ludolph Albert C.,
Otto Markus
Publication year - 2016
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24552
Subject(s) - neurofilament , amyotrophic lateral sclerosis , asymptomatic , cerebrospinal fluid , medicine , pathology , asymptomatic carrier , disease , immunohistochemistry
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 2016;79:152–158