Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease

Neurology

Volumn 47, Issue 4 SUPPL., 1996, Pages

  Cleveland, D W ^a   Bruijn, L I ^a   Wong, P C ^c   Marszalek, J R ^b   Vechio, J D ^a   Lee, M K ^c   Xu, X S ^d   Borchelt, D R ^c   Sisodia, S S ^c   Price, D L ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SUPEROXIDE DISMUTASE;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL MODEL; ANIMAL TISSUE; CONTROLLED STUDY; ENZYME ACTIVITY; FAMILIAL DISEASE; GENE MUTATION; MOTOR NEURON DISEASE; MUSCLE ATROPHY; NERVE CELL NECROSIS; NERVE FIBER DEGENERATION; NEUROFILAMENT; NEWBORN; NONHUMAN; PRIORITY JOURNAL; REVIEW; TRANSGENIC MOUSE;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; CELL DEATH; MICE; MICE, TRANSGENIC; MOTOR NEURON DISEASE; NEUROFILAMENT PROTEINS;

EID: 10244256425     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (37)

1. Carpenter S. Proximal axonal enlargement in motor neuron disease. Neurology 1968;18:841-851.
2. Chou SM. Pathology of intraneuronal inclusions in ALS. In: Tsubaki T, Toyokura Y, eds. Amyotrophic lateral sclerosis: proceedings of the International Symposium on ALS. Baltimore: University Park Press, 1979:135-176.
3. Hirano A, Nakano I, Kurland LT, Mulder DW, Holley PW, Saccomanno G. Fine structural study of neurofibrillary changes in a family with amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 1984;43:471-480.
4. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62.
5. Deng H-X, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993;261:1047-1051.
6. Bowling AC, Schulz JB, Brown RH Jr, Beal MF. Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis. J Neurochem 1993;61:2322-2325.
7. Orrell R, Belleroche J, Marklund S, Bowe F, Hallewell R. A novel SOD mutant and ALS. Nature 1995;374:504-505.
8. Rothstein JD, Bristol LA, Hosler B, Brown RH Jr, Kuncl RW. Chronic inhibition of superoxide dismutase produces apoptotic death of spinal neurons. Proc Natl Acad Sci USA 1994;91:4155-4159.
9. Borchelt DR, Lee MK, Slunt HS, et al. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc Natl Acad Sci USA 1994;91:8292-8296.
10. Cleveland DW, Laing N, Hurse PV, Brown RH. Toxic mutants in Charcot's sclerosis. Nature 1995;378:342-343.
11. Chou SM, Fakadej AV. Ultrastructure of chromatolytic motor neurons and anterior spinal roots in a case of Werdnig-Hoffman disease. J Neuropathol Exp Neurol 1971;30:42-55.
12. Hirano A. Cytopathology of amyotrophic lateral sclerosis. In: Rowland LP, ed. Advances in neurology, vol 56. Amyotrophic lateral sclerosis and other motor neuron diseases. New York: Raven Press, 1991:91-101.
13. Figlewicz DA, Krizus A, Martinoli MG, et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 1994;3:1757-1761.
14. Wiley CA, Love S, Skoglund RR, Lampert PW. Infantile neurodegenerative disease with neuronal accumulation of phosphorylated neurofilaments. Acta Neuropathol (Berl) 1987;72:369-376.
15. Xu Z, Cork LC, Griffin JW, Cleveland DW. Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 1993;73:23-33.
16. Cote F, Collard JF, Julien JP. Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 1993;73:35-46.
17. Hirano A, Donnenfeld H, Sasaki S, Nakano I. Fine structural observations of neurofilamentous changes in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 1984;43:461-470.
18. Hirano A. Color atlas of pathology of the nervous system. 2nd ed. New York: Igaku-shoin, 1988:99.
19. Collard JF, Cote F, Julien JP. Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis. Nature 1995;375:61-64.
20. Lee MK, Marszalek JR, Cleveland DW. A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 1994;13:975-988.
21. Fuchs E. Keratins and the skin. Annu Rev Cell Dev Biol 1995;11:123-154.
22. Delisle MB, Carpenter S. Neurofibrillary axonal swellings and amyotrophic lateral sclerosis. J Neurol Sci 1984;63:241-250.
23. Brown LT. Projection and termination of the corticospinal tract in rodents. Exp Brain Res 1971;13:432-450.
24. Schmalbruch H, Jensen H-JS, Bjorg M, Kamieniecka Z, Kurland L. A new mouse mutant with progressive motor neuronopathy. J Neuropathol Exp Neurol 1991;50:192-204.
25. Kawamura Y, Dyck PJ, Shimono M, Okazaki H, Tateishi J, Doi H. Morphometric comparison of the vulnerability of peripheral motor and sensory neurons in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 1981;40:667-675.
26. Vechio JV, Bruijn LI, Xu Z-S, Brown RH Jr, Cleveland DW. Identification of variants in human neurofilament genes: absence of linkage to familial ALS. Ann Neurol (in press).
27. Brown RH Jr. Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice. Cell 1995;80:687-692.
28. Wong PC, Pardo CA, Borchelt DR, et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 1995;14:1105-1116.
29. Tsuda T, Muthasser S, Fraser PE, et al. Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis. Neuron 1994;13:727-736.
30. Pardo CA, Xu Z, Borchelt DR, Price DL, Sisodia SS, Cleveland DW. Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons. Proc Natl Acad Sci USA 1995;92:954-958.
31. Reaume AB, Elliott JL, Hoffman EK, et al. Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat Genet 1996;13:43-47.
32. Gurney ME, Pu H, Chiu AY, et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994;264:1772-1775.
33. Ripps ME, Huntley GW, Hof PR, Morrison JH, Gordon JW. Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 1995;92:689-693.
34. Dal Canto MC, Gurney ME. Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu,Zn SOD and in mice overexpressing wild type human SOD: a model of familial amyotrophic lateral sclerosis (FALS). Brain Res 1995;676:25-40.
35. Beckman JS, Carson M, Smith CD, Koppenol WH. ALS, SOD and peroxynitrite. Nature 1993;364:584.
36. Wiedau-Pazos M, Goto JJ, Rabizadeh S, et al. Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis. Science 1996;271:515-518.
37. Rooke K, Figlewicz DA, Han F, Rouleau GA. Analysis of the KSP repeat of the neurofilament heavy subunit in familial amyotrophic lateral sclerosis. Ann Neurol 1996;46:789-790.