Hereditary neuropathies & als
Neurofilament light chain (NEFL) protein is one of the neurofilament-core-subunits, forming heterodimers. Toxic neurofilament-accumulation is a hallmark of many neurodegenerative disorders and the potential of NEFL to serve as a serum biomarker in different neurological disorders was investigated. NEFL mutations cause demyelinating, axonal and intermediate forms of Charcot-Marie-Tooth disease (CMT), whereby most of the mutations are dominant missense variants functioning through a gain-of-function mechanism by perturbing neurofilament assembly and organelle transportation in axons.
Source: Neuromuscular Disorders - Category: Neurology Authors: H. K ölbel, A. Henschel, A. Della Marina, A. Abicht, A. Sickmann, J. Weis, U. Schara, A. Roos Source Type: research