Peripherin is a neuronal intermediate filament associated with inclusion bodies in motor
neurons of patients with amyotrophic lateral sclerosis (ALS). A possible peripherin
involvement in ALS pathogenesis has been suggested based on studies with transgenic
mouse overexpressors and with a toxic splicing variant of the mouse peripherin gene.
However, the existence of peripherin gene mutations in human ALS has not yet been
documented. Therefore, we screened for sequence variants of the peripherin gene (PRPH) …