The DOI matches its Crossref record.
Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)
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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Citations
Cited by
UNRAVELING THE MECHANISMS INVOLVED IN MOTOR NEURON DEGENERATION IN ALS
Bruijn, L. I., Miller, T. M., & Cleveland, D. W. (2004) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.27.070203.144244 · Cited by 1,185
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
Pasinelli, P., & Brown, R. H. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1971 · Cited by 1,107
The changing scene of amyotrophic lateral sclerosis
Robberecht, W., & Philips, T. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3430 · Cited by 957
Axonal transport deficits and neurodegenerative diseases
Millecamps, S., & Julien, J.-P. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3380 · Cited by 755
Neurofilaments and Neurofilament Proteins in Health and Disease
Yuan, A., Rao, M. V., Veeranna, & Nixon, R. A. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a018309 · Cited by 731
Metadata
- Authors
- Tomkins, J., Usher, P., Slade, J. Y., Ince, P. G., Curtis, A., Bushby, K., & Shaw, P. J.
- Venue
- NeuroReport
- Published
- 1998-12
- Volume
- 9
- Issue
- 17
- Pages
- 3967-3970
- ISSN
- 0959-4965 (ISSN-L)
- OpenAlex
- W2067250059
- Cited by
- 173
- References
- 0
- FWCI
- 7.58
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS). https://app.cochat.ai/papers/10.1097/00001756-199812010-00036
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- Tomkins, J., Usher, P., Slade, J. Y., Ince, P. G., Curtis, A., Bushby, K., & Shaw, P. J. (1998). Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS). NeuroReport. https://doi.org/10.1097/00001756-199812010-00036
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
