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

Neuroreport. 1998 Dec 1;9(17):3967-70. doi: 10.1097/00001756-199812010-00036.


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 84 bp 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 insertion provides further support of a role for neurofilaments in the pathogenesis of ALS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Amyotrophic Lateral Sclerosis / genetics*
  • Base Sequence
  • Chromosome Deletion
  • Conserved Sequence
  • Female
  • Humans
  • Molecular Sequence Data
  • Mutagenesis, Insertional*
  • Neurofilament Proteins / genetics*
  • Retrospective Studies
  • Trinucleotide Repeats*


  • Neurofilament Proteins