Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)
J Tomkins, P Usher, JY Slade, PG Ince, A Curtis… - …, 1998 - journals.lww.com
THE abnormal assembly and accumulation of neurofilaments (NF) in the perikarya and
proximal axons of motor neurones is a characteristic of ALS. Deletions 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 84bp insertion in the NF-H gene. This leads to an
extra four KSP repeat elements in a highly conserved repetitive region of the gene. Although
neurofilament mutations are only associated with a very small proportion of ALS cases, this …
proximal axons of motor neurones is a characteristic of ALS. Deletions 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 84bp insertion in the NF-H gene. This leads to an
extra four KSP repeat elements in a highly conserved repetitive region of the gene. Although
neurofilament mutations are only associated with a very small proportion of ALS cases, this …