Amyotrophic lateral sclerosis: Pathogenesis

Seminars in Neurology

Volumn 21, Issue 2, 2001, Pages 131-139

  Brown R H , Jr ^a   Robberecht, W ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Amyotrophic lateral sclerosis

Indexed keywords

MUTANT PROTEIN; SUPEROXIDE DISMUTASE;

AMYOTROPHIC LATERAL SCLEROSIS; GENE MUTATION; HUMAN; MOTONEURON; NERVE CELL DEGENERATION; PARALYSIS; PATHOGENESIS; PRIORITY JOURNAL; REVIEW;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; HUMANS; MICE; MOTOR NEURONS; MUTATION; NEURONS; SUPEROXIDE DISMUTASE;

EID: 0034961104     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-15260     Document Type: Review

References (100)

1. Familial adult motor neuron disease: Amyotrophic lateral sclerosis
2. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
3. D 90 A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
4. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
5. Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: Evidence for a linked prorective factor
6. Prognosis in familial amyotrophic lateral sclerosis: Progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase
7. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
8. Superoxide radical and superoxide dismutases
9. Superoxide dismutase activity, oxidative damage and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis
10. Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis
11. Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis
12. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
13. Red blood cell Cu/Zn superoxide dismutase activity in sporadic amyotrophic lateral sclerosis
14. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity
15. Increased 3-nitrotyrosine in both sporadic and familial amyotrophic lateral sclerosis
16. Relationship of oxygen radical-induced lipid peroxidative damage to disease onset and progression in a transgenic model of familial ALS
17. Presence of 4-hydroxynonenal in cerebrospinal fluid of patients with sporadic amyotrophic lateral sclerosis
18. Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop nor-really but exhibit enhanced cell death after axonal injury
19. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
20. Characterization of three yeast copper-zinc superoxide dismutase mutants analogous to those coded for in familial amyotrophic lateral sclerosis
21. Impaired copper binding by the H46R mutant of human Cu,Zn superoxide dismutase, involved in amyotrophic lateral sclerosis
22. Decreased zinc affinity of amyotrophic lateral sclerosis-associated superoxide dismutase mutants leads to enhanced catalysis of tyrosine nitration by peroxynitrite
23. Induction of nitric oxide-dependent apoptosis in motor neurons by zinc-deficient superoxide dismutase
24. ALS, SOD, and peroxynitrite
25. Superoxide dismutase catalyzes nitration of tyrosines by peroxynitrite in the rod and head domains of neurofilament-L
26. Elevated free nitrotyrosine levels but not protein-bound nitrotyrosine or hydroxyl radicals, throughout amyotrophic lateral sclerosis (ALS)-like disease implicate tyrosine nitration as an aberrant in vivo property of one familial ALS-linked superoxide dismutase 1 mutant
27. Increased 3-nitrotyrosine and oxidative damage in mice with a human copper/zinc superoxide dismutase mutation
28. Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis
29. m for hydrogen peroxide
30. m value
31. Elevated "hydroxyl radical" generation in vivo in an animal model of amyotrophic lateral sclerosis
32. Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1
33. Voltage-activated sodium currents in a cell line expressing a Cu,Zn superoxide dismutase typical of familial ALS
34. Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1
35. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mirochondria
36. Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons
37. Axonal transport of mutant superoxide dismutase 1 and focal axonal abnormalities in the proximal axons of transgenic mice
38. Chronic inhibition of superoxide dismutase produces apoptotic death of spinal neutrons
39. Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS
40. Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: Studies in yeast and neural cells
41. Mutant superoxide dismutase-1-linked familial amyotrophic lateral sclerosis: Molecular mechanisms of neuronal death and protection
42. Caspase-1 is activated in neural cells and tissue with amyotrophic lateral sclerosis-associated mutations in copper-zinc superoxide dismutase
43. Functional role of caspase-1 and caspase-3 in an ALS transgenic mouse model
44. Inhibition of ICE slows ALS in mice
45. Bcl-2: Prolonging life in a transgenic mouse model of familial amyotrophic lateral sclerosis
46. Functional role of caspase-1 and caspase-3 in an ALS transgenic mouse model
47. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
48. Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis
49. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34
50. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
51. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers
52. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35
53. Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33
54. Report of an X-linked form of spinal muscular atrophy
55. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
56. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
57. Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene
58. Caspase-8 is required for cell death induced by expanded polyglutamine repeats
59. Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis
60. Amyotrophic lateral sclerosis-linked glutamate transporter mutant has impaired glutamate clearance capacity
61. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease
62. Mutant AP endonuclease in patients with amyotrophic lateral sclerosis
63. Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis
64. Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease
65. Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: Evidence for a major influence on the clinical presentation and prognosis
66. Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease
67. Potential role of LIF as a modifier gene in the pathogenesis of amyotrophic lateral sclerosis
68. Distribution of MnSOD polymorphisms in sporadic ALS patients
69. Glutamate, excitotoxicity and amyotrophic lateral sclerosis
70. The role of excitotoxicity in neurodegenerative disease: Implications for therapy
71. Dose-ranging study of riluzole in amyotrophic lateral sclerosis
72. A controlled trial of riluzole in amyotrophic lateral sclerosis
73. Benefit of vitamin E, riluzole, and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis
74. Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis
75. Selective loss of glial glutamate transporter GLT-1 in amyotrophic lateral sclerosis
76. Aberrant RNA processing in a neurodegenerative disease: The cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis
77. SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter
78. Elevated cortical extracellular fluid glutamate in transgenic mice expressing human mutant (G93A) Cu/Zn superoxide dismutase
79. Chronic inhibition of glutamate uptake produces a model of slow neurotoxicity
80. Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses?
81. 2+ overload and ROS generation in spinal motor neurons in vitro
82. 2+ concentration in transfected neuroblastoma SH-SY5Y cells
83. Ultrastructural evidence for altered calcium in motor nerve terminals in amyotrophic lateral sclerosis
84. Intracellular calcium parallels motoneuron degeneration in SOD-1 mutant mice
85. 2+ currents in a motoneuron cell line
86. Apoptotic cell death of a hybrid motoneuron cell line induced by immunoglobulins from patients with amyotrophic lateral sclerosis
87. Cytotoxicity of immunoglobulins from amyotrophic lateral sclerosis patients on a hybrid motoneuron cell line
88. Serum antibodies to L-type calcium channels in patients with amyotrophic lateral sclerosis
89. Kainic acid induces early and delayed degenerative neuronal changes in rat spinal cord
90. Motor neuron degeneration induced by excitotoxin agonists has features in common with those seen in the SOD-1 transgenic mouse model of amyotrophic lateral sclerosis
91. 2+-permeable AMPA receptors and selective vulnerability of motor neurons
92. AMPA receptor current density, not desensitization, predicts selective motoneuron vulnerability
93. AMPA receptor calcium permeability, GluR2 expression, and selective motoneuron vulnerability
94. Reduction of GluR2 RNA editing, a molecular change that increases calcium influx through AMPA receptors, selective in the spinal ventral gray of patients with amyotrophic lateral sclerosis
95. Calcium dynamics and buffering in motoneurones of the mouse spinal cord
96. Calcium dynamics and buffering in oculomotor neurones from mouse that are particularly resistant during amyotrophic lateral sclerosis (ALS)-related motoneurone disease
97. The role of calcium-binding proteins in selective motoneuron vulnerability in amyotrophic lateral sclerosis
98. Parvalbumin is a marker of ALS-resistant motor neurons
99. Parvalbumin and calbindin D-28k in the human motor system and in motor neuron disease
100. Brainstem motoneuron pools that are selectively resistant in amyotrophic lateral sclerosis are preferentially enriched in parvalbumin: Evidence from monkey brainstem for a calcium-mediated mechanism in sporadic ALS