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Nat Rev Genet. 2009 Nov;10(11):769-82. doi: 10.1038/nrg2680. Epub 2009 Oct 13.

Genetics of motor neuron disorders: new insights into pathogenic mechanisms.

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  • 1Centre Hospitalier Universitaire Sainte-Justine Research Center, Centre of Excellence in Neuromics, Universit de Montral, Quebec H2L 2W5, Canada.

Abstract

The past few years have seen the identification of dozens of genes with causal roles in motor neuron diseases (MNDs), particularly for amyotrophic lateral sclerosis and hereditary spastic paraplegia. Although many additional MND genes remain to be identified, the accumulated genetic evidence has already provided new insights into MND pathogenesis, which adds to the well-established involvement of superoxide dismutase 1 (SOD1) mutations. The pathways that have been recently implicated include those that affect RNA processing, axonal transport and mitochondrial function. The functional classes of MND genes identified so far are likely to aid the selection of high-priority candidate genes for future investigation, including those for so-called sporadic cases.

PMID:
19823194
[PubMed - indexed for MEDLINE]
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