Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)

THE abnormal assembly and accumulation of neurofilaments (NF) in the perika rya and proximal axons of motor neurones is a characteristic of ALS. Deleti ons in the KSP repeat region of the NF-H gene have previously been reported in seven patients with sporadic ALS. Here we report the identification of a novel 84 bp insertion in the NF-H gene. This leads to an extra four KSP r epeat elements in a highly conserved repetitive region of the gene. Althoug h neurofilament mutations are only associated with a very small proportion of ALS cases, this insertion provides further support of a role for neurofi laments in the pathogenesis of ALS. NeuroReport 9: 3967-3970 (C) 1998 Lippi ncott Williams & Wilkins.