Neurofilament proteins, which provide crucial cytoskeletal support to neurons, have been shown to be elevated in the blood and cerebrospinal fluid (CSF) of patients with ALS (see June 2015 news). However, it is unclear whether neurofilaments can serve as a biomarker to distinguish motor neurons diseases from their disease mimics. Researchers led by Markus Otto from the University of Ulm, Germany, assayed the CSF of 455 patients with ALS, primary lateral sclerosis (PLS), motor neuron disease (MND) mimics, or neurological controls. According to the findings published in the Aug 21 Journal of Neurology, Neurosurgery, and Psychology, both neurofilament light chain (NfL) and phosphorylated neurofilament heavy chain (pNfH) were significantly elevated in CSF from patients with either ALS or PLS (classified here jointly as MND), but not in the MND mimics, thereby providing a marker to distinguish the two categories. Other proteins, such as Tau and phospho-tau, did not differ amongst the groups.
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Steinacker P, Feneberg E, Weishaupt J, Brettschneider J, Tumani H, Andersen PM, von Arnim CA, Böhm S, Kassubek J, Kubisch C, Lulé D, Müller HP, Muche R, Pinkhardt E, Oeckl P, Rosenbohm A, Anderl-Straub S, Volk AE, Weydt P, Ludolph AC, Otto M. Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients. J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):12-20. Epub 2015 Aug 21. [Pubmed].