Familial amyotrophic lateral sclerosis, a historical perspective

Acta Myologica

Volumn 30, Issue OCTOBER, 2011, Pages 117-120

  Siddique, T ^a   Ajroud Driss, Senda ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

ALS; GWAS; SOD1

Indexed keywords

AMYOTROPHIC LATERAL SCLEROSIS; GENETIC ASSOCIATION; REVIEW;

AMYOTROPHIC LATERAL SCLEROSIS; FAMILY HEALTH; GENE-ENVIRONMENT INTERACTION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MOTOR NEURONS; NEURAL PATHWAYS; PEDIGREE; SUPEROXIDE DISMUTASE; THERAPIES, INVESTIGATIONAL;

EID: 81455128285     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (32)

1. 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. (Pubitemid 23087289)
2. Hong SBB ST. X-linked dominant locus for late-onset familial amyotrophic lateral sclerosis (Abstract). Soc Neurosci 1998;24:478.
3. Cudkowicz ME, McKenna-Yasek D, Sapp PE, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997;41:210-21. (Pubitemid 27082102)
4. Juneja T, Pericak-Vance MA, Laing NG, et al. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase. Neurology 1997;48:55-7. (Pubitemid 27039517)
5. Lopate G, Baloh RH, Al-Lozi MT, et al. Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation. Amyotroph Lateral Scler 2010;11:232-6.
6. Saeed M, Yang Y, Deng HX, et al. Age and founder effect of SOD1 A4V mutation causing ALS. Neurology 2009;72:1634-9.
7. Engel WK, Kurland LT, Klatzo I. An inherited disease similar to amyotrophic lateral sclerosis with a pattern of posterior column involvement. An intermediate form? Brain 1959;82:203-20.
8. Ince PG, Shaw PJ, Slade JY, et al. Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes. Acta Neuropathol 1996;92:395-403. (Pubitemid 26317107)
9. Ince PG, Tomkins J, Slade JY, et al. Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol 1998;57:895-904. (Pubitemid 28478000)
10. Deng HX, Zhai H, Bigio EH, et al. FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis. Ann Neurol 67:739-48.
11. Gurney ME, Pu H, Chiu AY, et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994;264:1772-5. (Pubitemid 24227760)
12. Deng HX, Shi Y, Furukawa Y, et al. Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria. Proc Natl Acad Sci U S A 2006;103:7142-7.
13. Strom AL, Gal J, Shi P, et al. Retrograde axonal transport and motor neuron disease. J Neurochem 2008;106:495-505.
14. Wang L, Popko B, Roos RP. The unfolded protein response in familial amyotrophic lateral sclerosis. Hum Mol Genet 2010;20:1008-15.
15. Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001;29:160-5. (Pubitemid 32952652)
16. 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;75:822-31. (Pubitemid 39390489)
17. Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008;319:1668-72. (Pubitemid 351432505)
18. Buratti E, Baralle FE. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci 2008;13:867-78. (Pubitemid 351594732)
19. Buratti E, Baralle FE. The multiple roles of TDP-43 in premRNA processing and gene expression regulation. RNA Biol 2010;7:420-9.
20. Vance C, Rogelj B, Hortobagyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009;323:1208-11.
21. Kwiatkowski TJ Jr., Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009;323:1205-8.
22. Yan J, Deng HX, Siddique N, et al. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology 2010;75:807-14.
23. Shen X, Ying H, Qiu Y, et al. Processing of optineurin in neuronal cells. J Biol Chem 2011;286:3618-29.
24. Weihl CC. Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis. Curr Alzheimer Res 2011;8:252-60.
25. van Es MA, Veldink JH, Saris CG, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009;41:1083-7.
26. Shatunov A, Mok K, Newhouse S, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010;9:986-94.
27. Laaksovirta H, Peuralinna T, Schymick JC, et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010;9:978-85.
28. Saeed M, Siddique N, Hung WY, et al. Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology 2006;67:771-6. (Pubitemid 44394187)
29. Slowik A, Tomik B, Wolkow PP, et al. Paraoxonase gene polymorphisms and sporadic ALS. Neurology 2006;67:766-70. (Pubitemid 44394186)
30. Cronin S, Greenway MJ, Prehn JH, et al. Paraoxonase promoter and intronic variants modify risk of sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2007;78:984-6. (Pubitemid 47310838)
31. Valdmanis PN, Kabashi E, Dyck A, et al. Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden. Neurology 2008;71:514-20.
32. Ticozzi N, LeClerc AL, Keagle PJ, et al. Paraoxonase gene mutations in amyotrophic lateral sclerosis. Ann Neurol 2010;68:102-7.