Differential Motor Neuron Impairment and Axonal Regeneration in Sporadic and Familiar Amyotrophic Lateral Sclerosis with SOD-1 Mutations: Lessons from Neurophysiology

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Bocci, Tommaso ; Pecori, Chiara ; Giorli, Elisa ; Briscese, Lucia ; Tognazzi, Silvia ; Caleo, Matteo ; Sartucci, Ferdinando (2011)
  • Publisher: Molecular Diversity Preservation International (MDPI)
  • Journal: International Journal of Molecular Sciences, volume 12, issue 12, pages 9,203-9,215 (issn: 1422-0067, eissn: 1422-0067)
  • Related identifiers: pmc: PMC3257125, doi: 10.3390/ijms12129203
  • Subject: Chemistry | macro-EMG | QD1-999 | SOD-1 carriers | MUNE | Amyotrophic Lateral Sclerosis | Biology (General) | Article | QH301-705.5

Amyotrophic Lateral Sclerosis (ALS) is a degenerative disorder of the motor system. About 10% of cases are familial and 20% of these families have point mutations in the Cu/Zn superoxide dismutase 1 (SOD-1) gene. SOD-1 catalyses the superoxide radical (O−2) into hydroge... View more
  • References (55)
    55 references, page 1 of 6

    1. Juergens, S.M.; Kurland, L.T.; Okazaki, H.; Mulder, D.W. ALS in rochester, minnesota, 1925-1977. Neurology 1980, 30, 463-470.

    2. Rosen, D.R.; Siddique, T.; Patterson, D.; Figlewicz, D.A.; Sapp, P.; Hentati, A.; Donaldson, D.; Goto, J.; O'Regan, J.P.; Deng, H.X.; et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362, 59-62.

    3. Amyotrophic Lateral Sclerosis Online Genetics Database. http: //alsod.iop.kcl.ac.uk/ (accessed on 8 October 2011).

    4. de Belleroche, J.; Orrell, R.; King, A. Familial amyotrophic lateral sclerosis/motor neuron disease (FALS): A review of current developments. J. Med. Genet. 1995, 32, 841-847.

    5. Aggarwal, A.; Nicholson, G. Detection of preclinical motor neuron loss in sod1 mutation carriers using motor unit number estimation. J. Neurol. Neurosurg. Psychiatry 2002, 73, 199-201.

    6. Clarke, G.; Lumsden, C.J.; McInnes, R.R. Inherited neurodegenerative diseases: The one-hit model of neurodegeneration. Hum. Mol. Genet. 2001, 10, 2269-2275.

    7. Johnston, J.A.; Dalton, M.J.; Gurney, M.E.; Kopito, R.R. Formation of high molecular weight complexes of mutant Cu, Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis. Proc. Natl. Acad. Sci. USA 2000, 97, 12571-12576.

    8. Bruijn, L.I.; Becher, M.W.; Lee, M.K.; Anderson, K.L.; Jenkins, N.A.; Copeland, N.G.; Sisodia, S.S.; Rothstein, J.D.; Borchelt, D.R.; Price, D.L.; et al. ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions. Neuron 1997, 18, 327-338.

    9. Deng, H.X.; Shi, Y.; Furukawa, Y.; Zhai, H.; Fu, R.; Liu, E.; Gorrie, G.H.; Khan, M.S.; Hung, W.Y.; Bigio, E.H.; et al. Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria. Proc. Natl. Acad. Sci. USA 2006, 103, 7142-7147.

    10. Kong, J.; Xu, Z. Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1. J. Neurosci. 1998, 18, 3241-3250.

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