Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis and Spinal Muscular Atrophy

Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders: Second Edition

Volumn , Issue , 2011, Pages 418-433

  Strong, Michael J ^a   Hortobágyi, Tibor ^b   Okamoto, Koichi ^c   Kato, Shinsuke ^d  

^a ROBARTS RESEARCH INSTITUTE   (Canada)

^b King s College London   (United Kingdom)

^c GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d TOTTORI UNIVERSITY   (Japan)

Author keywords

Frontotemporal degeneration; FUS TLS; Motor neuron disease; Neurodegeneration; Neurofilament; RNA metabolism; SMN; SOD1; TDP 43

Indexed keywords

EID: 84885975118     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781444341256.ch44     Document Type: Chapter

References (98)

1. Strong MJ. The basic aspects of therapeutics in amyotrophic lateral sclerosis. Pharmacol Ther 2003; 98: 379-414.
2. Strong MJ. The evidence for ALS as a multisystems disorder of limited phenotypic expression. Can J Neurol Sci 2001; 28: 283-298.
3. Strong MJ. The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2008; 9: 323-338.
4. Strong MJ, Grace GM, Freedman M et al. Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2009; 10: 131-146.
5. Strong MJ, Gordon PH. Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis-discrete entities or spectrum? Amyotroph Lateral Scler Other Motor Neuron Disord 2005; 6: 8-16.
6. Logroscino G, Traynor BJ, Hardiman O et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiat 2009; 81: 385-390.
7. Fang F, Valdimarsdóttir U, Bellocco R et al. Amyotrophic lateral sclerosis in Sweden, 1991-2005. Arch Neurol 2009; 66: 515-519.
8. Gajdusek DC, Salazar AM. Amyotrophic lateral sclerosis and parkinsonian syndromes in high incidence among the Auyu and Jakai people of West New Guinea. Neurology 1982; 32: 107-126.
9. Plato CC, Garruto RM, Galasko D et al. Amyotrophic lateral sclerosis and parkinsonism-dementia complex of Guam: changing incidence rates during the past 60 years. Am J Epidemiol 2003; 157: 149-157.
10. Yoshida S, Uebayashi Y, Kihira T et al. Epidemiology of motor neuron disease in the Kii Peninsula of Japan, 1989-1993: active or disappearing focus? J Neurol Sci 1998; 155: 146-155.
11. Strong MJ, Hudson AJ, Alvord WG. Familial amyotrophic lateral sclerosis, 1850-1989: a statistical analysis of the world literature. Can J Neurol Sci 1991; 18: 45-58.
12. Andersen PM, Forsgren L, Binzer M et al. Autosomal recessive adultonset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996; 119: 1153-1172.
13. Riggs JE. Amyotrophic lateral sclerosis, heterogeneous susceptibility, trauma, and epidemiology. Arch Neurol 1996; 53: 225-227.
14. Neilson S, Robinson I, Hunter M. Longitudinal Gompertzian analysis of ALS mortality in England and Wales, 1963-1989: estimates of susceptibility in the general population. Mech Ageing Dev 1992; 64: 201-216.
15. Armon C. Smoking may be considered an established risk factor for sporadic ALS. Neurology 2009; 73: 1693-1698.
16. Gallo V, Bueno-De-Mesquita HB, Vermeulen R et al. Smoking and risk for amyotrophic lateral sclerosis: analysis of the EPIC cohort. Ann Neurol 2009; 65: 378-385.
17. Nelson LM, McGuire V, Longstreth WT Jr, Matkin C. Populationbased case-control study of amyotrophic lateral sclerosis in western Washington state. I. Cigarette smoking and alcohol consumption. Am J Epidemiol 2000; 151: 156-163.
18. Nelson LM, Matkin C, Longstreth WT Jr, McGuire V. Populationbased case control study of amyotrophic lateral sclerosis in western Washington State. II. Diet. Am J Epidemiol 2000; 151: 164-173.
19. Strong MJ. The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS). J Neurol Sci 2010; 288: 1-12.
20. Andersen PM, Nilsson P, Keränen M-L et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 1997; 120: 1723-1737.
21. Ge WW, Wen W, Strong W, Leystra-Lantz C, Strong MJ. Mutant copper/zinc superoxide dismutase binds to and destabilizes human low molecular weight neurofilament mRNA. J Biol Chem 2005; 280: 118-124.
22. Li X, Lu L, Bush DJ et al. Mutant copper-zinc superoxide dismutase associated with amyotrophic lateral sclerosis binds to the adenine/ uridine-rich stability elements in the vascular endothelial growth factor 3 '-untranslated region. J Neurochem 2009; 108: 1032-1044.
23. Yamasaki S, Ivanov P, Hu G, Anderson P. Angiogenin cleaves tRNA and promotes stress-induced translational repression. J Cell Biol 2009; 185: 35-42.
24. Crabtree B, Thiyagarajan N, Prior SH et al. Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis. Biochem 2007; 46: 11810-11818.
25. Gao X, Xu Z. Mechanisms of action of angiogenin. Acta Biochim Biophys Sin 2008; 40: 619-624.
26. Oosthuyse B, Moons L, Storkebaum E et al. Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration. Nat Genet, 2001; 28: 131-138.
27. Zheng C, Nennesmo I, Fadeel B, Henter JI. Vascular endothelial growth factor prolongs survival in a transgenic mouse model of ALS. Ann Neurol 2004; 56: 564-567.
28. Wang Y, Mao XO, Xie L et al. Vascular endothelial growth factor overexpression delays neurodegeneration and prolongs survival in amyotrophic lateral sclerosis mice. J Neurosci, 2007; 27: 304-307.
29. Kieran D, Sebastia J, Greenway MJ et al. Control of motor neuron survival by angiogenin. J Neurosci 2008; 28: 14056-14061.
30. Lambrechts D, Storkebaum E, Morimoto M et al. VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 2003; 34: 383-394.
31. Chen Y-Z, Bennett CL, Huynh HM et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004; 74: 1128-1135.
32. Grohmann K, Schuelke M, Diers A et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001; 29: 75-77.
33. Buratti E, Baralle FE. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci 2008; 13: 867-878.
34. Buratti E, Baralle FE. Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem 2001; 276: 36337-36343.
35. Buratti E, Brindisi A, Pagani F, Baralle FE. Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am J Hum Genet 2004; 74: 1322-1325.
36. Strong MJ, Volkening K, Hammond R et al. TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein. Mol Cell Neurosci 2007; 35: 320-327.
37. Moisse K, Volkening K, Leystra-Lantz C, Welch I, Hill T, Strong MJ. Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy. Brain Res 2009; 1249: 202-211.
38. Iko Y, Kodama TS, Kasai N et al. Domain architectures and characterization of an RNA-binding protein, TLS. J Biol Chem 2004; 279: 44834-44840.
39. Nishimura AL, Mitne-Neto M, Silva HC et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004; 75: 822-831.
40. Hirano M. VAPB: new genetic clues to the pathogenesis of ALS. Neurology 2008; 70: 1161-1162.
41. Kanekura K, Suzuki H, Aiso S, Matsuoka M. ER stress and unfolded protein response in amyotrophic lateral sclerosis. Mol Neurobiol 2009; 39: 81-89.
42. Tudor EL, Galtrey CM, Perkinton MS et al. Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology. Neuroscience 2010; 167: 774-785.
43. Hafezparast M, Klocke R, Ruhrberg C et al. Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 2003; 300: 808-812.
44. Levy JR, Holzbaur EL. Cytoplasmic dynein/dynactin function and dysfunction in motor neurons. Int J Dev Neurosci 2006; 24: 103-111.
45. Landers JE, Melki J, Meininger V et al. Reduced expression of kinesinassociated protein3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 2009; 106: 9004-9009.
46. Maruyama H, Morino H, Ito H et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010; 465: 223-226.
47. Mitchell J, Paul P, Chen HJ et al. Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase. Proc Natl Acad Sci USA 2010; 107: 7556-7561.
48. Beleza-Meireles A, Al-Chalabi A. Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives. Amyotroph Lateral Scler 2009; 10: 1-14.
49. Hirayama K, Tomonaga M, Kitano K, Yamada T, Kojima S, Arai K. Focal cervical poliopathy causing juvenile muscular atrophy of distal upper extremity: a pathological study. J Neurol Neurosurg Psychiat 1987; 50: 285-290.
50. Sobue I, Saito N, Iida M, Ando K. Juvenile type of distal and segmental muscular atrophy of upper extremities. Ann Neurol 1978; 3: 429-432.
51. Wijesekera LC, Mathers S, Talman P et al. Natural history and clinical features of the flail arm and flail leg ALS variants. Neurology 2009; 72: 1087-1094.
52. Bak TH, Hodges JR. Motor neurone disease, dementia and aphasia; coincidence, co-occurrence or continuum? J Neurol 2001; 248: 260-270.
53. Hudson AJ. Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurological disorders: a review. Brain 1981; 104: 217-247.
54. Lomen-Hoerth C, Anderson T, Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 2002; 59: 1077-1079.
55. Turner MR, Cagnin A, Turkheimer FE et al. Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: an [ 11 C] (R)-PK11195 positron emission tomography study. Neurobiol Dis 2004; 15: 601-609.
56. Johansson A, Engler H, Blomquist G et al. Evidence for astrocytosis in ALS demonstrated by [ 11 C](L)-deprenyl-D2 PET. J Neurol Sci 2007; 255: 17-22.
57. Zetterberg H, Jacobsson J, Rosengren L, Blennow K, Andersen PM. Cerebrospinal fluid neurofilament light levels in amyotrophic lateral sclerosis: impact of SOD1 genotype. Eur J Neurol 2007; 14: 1329-1333.
58. Rosengren LE, Karlsson J-E, Karlsson J-O, Persson LI, Wikkelsø C. Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF. J Neurochem 1996; 67: 2013-2018.
59. Norgren N, Rosengren L, Stigbrand T. Elevated neurofilament levels in neurological diseases. Brain Res 2003; 987: 25-31.
60. Reijn TS, Abdo WF, Schelhaas HJ, Verbeek MM. CSF neurofilament protein analysis in the differential diagnosis of ALS. J Neurol 2009; 256: 615-619.
61. Corbo M, Hays AP. Peripherin and neurofilament protein coexist in spinal spheroids of motor neuron disease. J Neuropathol Exp Neurol 1992; 51: 531-537.
62. Manetto V, Perry G, Tabaton M et al. Ubiquitin is associated with abnormal cytoplasmic filaments characteristic of neurodegenerative diseases. Proc Natl Acad Sci USA 1988; 85: 4501-4505.
63. Sobue G, Hashizume Y, Yasuda T et al. Phosphorylated high molecular weight neurofilament protein in lower motor neurons in amyotrophic lateral sclerosis and in other neurodegenerative diseases involving ventral horn cells. Acta Neuropathol 1990; 79: 402-408.
64. Machida Y, Tsuchiya K, Anno M et al. Sporadic amyotrophic lateral sclerosis with multiple system degeneration: a report of an autopsy case without respirator administration. Acta Neuropathol 1999; 98: 512-515.
65. Maekawa S, Leigh PN, King A et al. TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations. Neuropathology 2009; 29: 672-683.
66. Tan C-F, Eguchi H, Tagawa A et al. TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. Acta Neuropathol 2007; 113: 535-542.
67. Robertson J, Sanelli T, Xiao S et al. Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice show disparity with ALS. Neurosci Lett 2007; 420: 128-132.
68. Schiffer D, Autilio-Gambetti L, Chiò A et al. Ubiquitin in motor neuron disease: study at the light and electron microscope. J Neuropathol Exp Neurol 1991; 50: 463-473.
69. Bunina TL. On intracellular inclusions in familial amyotrophic lateral sclerosis. Korsakov J Neuropathol Psychiat 1962; 62: 1293-1299.
70. Okamato K, Hirai S, Amari M, Watanabe M, Sakurai A. Bunina bodies in amyotrophic lateral sclerosis immunostained with rabbit anti-cystatin C serum. Neurosci Lett 1993; 162: 125-128.
71. Piao YS, Wakabayashi K, Kakita A et al. Neuropathology with clinical correlations of sporadic amyotrophic lateral sclerosis: 102 autopsy cases examined between 1962 and 2000. Brain Pathol 2003; 13: 10-22.
72. Mizuno Y, Amari M, Takatama M, Aizawa H, Mihara B, Okamoto K. Transferrin localizes in Bunina bodies in amyotrophic lateral sclerosis. Acta Neuropathol 2006; 112: 597-603.
73. Okamoto K, Mizuno Y, Fujita Y. Bunina bodies in amyotrophic lateral sclerosis. Neuropathology 2008; 28: 109-115.
74. Tateishi T, Hokonohara T, Yamasaki R et al. Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol 2010; 119: 355-364.
75. Muñoz DG, Neumann M, Kusaka H et al. FUS pathology in basophilic inclusion body disease. Acta Neuropathol 2009; 118: 617-627.
76. Fujita Y, Mizuno Y, Takatama M, Okamoto K. Anterior horn cells with abnormal TDP-43 immunoreactivities show fragmentation of the Golgi apparatus in ALS. J Neurol Sci 2008; 269: 30-34.
77. Sasaki S, Iwata M. Mitochondrial alterations in the spinal cord of patients with sporadic amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 2007; 66: 10-16.
78. Lin C-LG, Bristol LA, Jin L et al. Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 1998; 20: 589-602.
79. Durham HD, Roy J, Dong L, Figlewicz DA. Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS. J Neuropathol Exp Neurol 1997; 56: 523-530.
80. Bruijn LI, Houseweart MK, Kato S et al. Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1. Science 1998; 281: 1851-1854.
81. Liu J, Lillo C, Jonsson PA et al. Toxicity from familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria. Neuron 2004; 43: 5-17.
82. Siklós L, Englehardt J, Harati Y, Smith RG, JoóF, Appel SH. Ultrastructural evidence for altered calcium in motor nerve terminals in amyotrophic lateral sclerosis. Ann Neurol 1996; 39: 203-216.
83. Masui Y, Mozai T, Kakehi K. Functional and morphometric study of the liver in motor neuron disease. J Neurol 1985; 232: 15-19.
84. Nakano Y, Hirayama K, Terao K. Hepatic ultrastructural changes and liver dysfunction in amyotrophic lateral sclerosis. Arch Neurol 1987; 44: 103-106.
85. Wiedemann FR, Winkler K, Kuznetsov A et al. Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis. J Neurol Sci 1998; 156: 65-72.
86. Fujita K, Yamauchi M, Shibayama K, Ando M, Honda M, Nagata Y. Decreased cytochrome C oxidase activity but unchanged superoxide dismutase and glutathione peroxidase activities in the spinal cords of patients with amyotrophic lateral sclerosis. J Neurosci Res 1996; 45: 276-281.
87. 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.
88. Browne SE, Bowling AC, Baik MJ, Gurney M, Brown RH Jr, Beal MF. Metabolic dysfunction in familial, but not sporadic, amyotrophic lateral sclerosis. J Neurochem 1998; 71: 281-287.
89. Strong MJ, Leystra-Lantz C, Ge W. Intermediate filament steady state mRNA levels in amyotrophic lateral sclerosis (ALS). Biochem Biophys Res CommUN 2004; 316: 317-322.
90. Robertson J, Doroudchi MM, Nguyen MD et al. A neurotoxic peripherin splice variant in a mouse model of ALS. J Cell Biol 2003; 160: 939-949.
91. Beaulieu J-M, Nguyen MD, Julien J-P. Late-onset death of motor neurons in mice overexpressing wild-type peripherin. J Cell Biol 1999; 147: 531-544.
92. Belsh JM, Schiffman PL. The amyotrophic lateral sclerosis (ALS) patient perspective on misdiagnosis and its repercussions. J Neurol Sci 1996; 139: 110-116.
93. McLean JR, Sanelli TR, Leystra-Lantz C, He BP, Strong MJ. Temporal profiles of neuronal degeneration, glial proliferation, and cell death in hNfl+ / + and NFL-/-mice. Glia 2005; 52: 59-69.
94. Julien J-P, Beaulieu J-M. Cytoskeletal abnormalities in amyotrophic lateral sclerosis: beneficial or detrimental effects? J Neurol Sci 2000; 180: 7-14.
95. Xiao S, Tjostheim S, Sanelli T et al. An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology. J Neurosci 2008; 28: 1833-1840.
96. Münch C, Sedlmeier R, Meyer T et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 2004; 63: 724-726.
97. Wils H, Kleinberger G, Janssens J et al. TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci USA 2010; 107: 3858-3863.
98. Brooks BR, World Federation of Neurology Research Group on Neuromuscular Disease. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci, 1994; 124 (suppl): 96-107.