The motor nerve cells are the biggest neurons in the human body. The structure of a nerve cell (neuron) and the transport processes within the neuron are ensured by support and transport molecules (cytoskeleton).
Neurofilaments are a very important group of proteins of the cytoskeleton. These are microscopically small tubular systems that can be regarded as important components of the cytoskeleton of motor neurons. It is well known that there is a disorder of the cytoskeleton in ALS and this is called a disorder of axonal transport (axon = nerve process). The axonal transport disorder is represented by swelling of the cell body (Fig. 1) of motor nerve cells and their processes (Fig. 2). This realisation was the impetus for a specific analysis of neurofilament genes in ALS. In fact, genetic changes were found in a few ALS patients so that mutations in the neurofilament (NF) gene have been suggested as a genetic risk factor for ALS (Fig. 3). However, these disorders in the NF gene are very rare and not suitable as a clinical diagnostic /procedure. Nevertheless, the role of NF is of great importance for basic ALS research. Influencing axonal transport by pharmacological approaches is an interesting experimental treatment concept, which is being tested in the animal model of ALS.