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

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

J Tomkins et al. Neuroreport. 1998.

Abstract

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.

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