SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis

Annals of Neurology

Volumn 39, Issue 1, 1996, Pages 128-131

  Rouleau, Guy A ^a,b   Clark, Arthur W ^c   Rooke, Karen ^a   Pramatarova, Albena ^a   Krizus, Aldis ^a   Suchowersky, Oksana ^c   Julien, Jean Pierre ^a   Figlewicz, Denise ^d  

^a MCGILL UNIVERSITY   (Canada)

^b MONTREAL GENERAL HOSPITAL   (Canada)

^c UNIVERSITY OF CALGARY   (Canada)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; ISOLEUCINE; THREONINE;

AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; NEUROFILAMENT; PRIORITY JOURNAL;

AGED; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; BASE SEQUENCE; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; NEUROFILAMENT PROTEINS; POINT MUTATION; SUPEROXIDE DISMUTASE;

EID: 0030034545     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410390119     Document Type: Article

References (17)

1. Rosen DR, Siddique T, Parterson D, et al. Mutations in Cu/Zn Superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62
2. Deng H-X, Hentati A, Tainer JA, et al. Amyotrophic literal sclerosis and structural defects in Cu,Zn Superoxide dismutase. Science 1993;261:1047-1051
3. Pramatarova A, Figlewicz D, Krizus A, et al. Identification of new mutations in the Cu/Zn Superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 1995;56:592-596
4. Carpenter S. Proximal axonal enlargement in motor neuron diseases. Neurology 1968;18:841-851
5. Sobue G, Hashizume Y, Yasuda T, et al. Phosphorylated high molecular weight neurofilament protein in lower motor neurons in amyotrophic lateral sclerosis and other neurodegenerative diseases involving ventral horn cells. Acta Neuropathol 1990;79:402-408
6. Côté F, Collard J-F, Julien J-P. Progressive neuropathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 1993;73:35-46
7. 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
8. 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
9. Durham HD. An antibody against hyperphosphorylated neurofilament proteins collapses the neurofilament network in motor neurons but not in dorsal root ganglion cells. J Neuropathol Exp Neurol 1992;51:287-297
10. Figlewicz D, Krizus A, Martinoli M, et al. Variant alleles of the neurofilament heavy gene associated with amyotrophic lateral sclerosis. Hum Mol Genet 1994;3:1757-1761.
11. Lee MK, Marszalek J, Cleveland DW. Involvement of neurofilaments in motor neuron disease: a point mutation in a neurofilament subunit causes massive, selective motor neuron cell death. Neuron 1994;13:975-988
12. Nixon RA. The regulation of neurofilament protein dynamics by phosphorylation: clues to neurofibrillary pathobiology. Brain Pathol 1993;3:29-38
13. Parhad IM, Griffin JW, Clark AW, Koves JF. Doxorubicin intoxication: neurofilamentous axonal changes with subacute neuronal death. J Neuropathol Exp Neurol 1984;43:188-200
14. Collard J-F, Cóté F, Julien J-P. Defective axonal transport in a transgenic mouse model of amyotrophic Lateral sclerosis. Nature 1995;375:61-64
15. Beckman JS, Carson M, Smith CD, Koppenol WH. ALS, SOD and peroxynitrite. Nature 1993;364:584 (Letter)
16. Wisniewski HM, Sturman JA, Shek JW. Aluminum chloride induced neurofibrillary changes in the developing rabbit: a chronic animal model. Ann Neurol 1980;8:479-490
17. Kawamura Y, Dyck PJ. Permanent axotomy by amputation results in loss of motor neurons in man. J Neuropathol Exp Neurol 1981;40:658-666