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

@article{Tomkins1998NovelII,
  title={Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS).},
  author={Janine Tomkins and Patricia Usher and Janet Y. Slade and Paul G. Ince and Ann Curtis and Katharine M. D. Bushby and Pamela J Shaw},
  journal={Neuroreport},
  year={1998},
  volume={9 17},
  pages={3967-70}
}
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… CONTINUE READING

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