Familial amyotrophic lateral sclerosis, a historical perspective

T Siddique, S Ajroud-Driss, T Siddique, S Ajroud-Driss

Abstract

Amyotrophic lateral sclerosis is a fatal neurodegenerative disease of the upper and lower motor neuron of unknown etiology. Although a familial cause for this disease has been suspected early one, it is only in the past two decades that advances in modern genetics led to the identification of more than 10 genes linked to familial ALS and helped us understand some of the complex genetic and environmental interactions that may contribute to sporadic ALS. In this article, we chronologically summarize the genetic breakthroughs in familial and sporadic ALS and depict how it shaped our understanding of disease pathogenesis and our quest for rational therapies.

References

    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.
    1. Hong SBB ST. X-linked dominant locus for late-onset familial amyotrophic lateral sclerosis (Abstract) Soc Neurosci. 1998;24:478–478.
    1. Cudkowicz ME, McKenna-Yasek D, Sapp PE, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:210–221.
    1. 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;48:55–57.
    1. 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;11:232–236.
    1. Saeed M, Yang Y, Deng HX, et al. Age and founder effect of SOD1 A4V mutation causing ALS. Neurology. 2009;72:1634–1639.
    1. 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;82:203–220.
    1. 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.
    1. 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.
    1. 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. 67:739–748.
    1. 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.
    1. 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;103:7142–7147.
    1. Strom AL, Gal J, Shi P, et al. Retrograde axonal transport and motor neuron disease. J Neurochem. 2008;106:495–505.
    1. Wang L, Popko B, Roos RP. The unfolded protein response in familial amyotrophic lateral sclerosis. Hum Mol Genet. 2010;20:1008–1015.
    1. 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;29:160–165.
    1. 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.
    1. Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008;319:1668–1672.
    1. Buratti E, Baralle FE. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci. 2008;13:867–878.
    1. Buratti E, Baralle FE. The multiple roles of TDP-43 in premRNA processing and gene expression regulation. RNA Biol. 2010;7:420–429.
    1. Vance C, Rogelj B, Hortobagyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323:1208–1211.
    1. 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;323:1205–1208.
    1. Yan J, Deng HX, Siddique N, et al. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology. 2010;75:807–814.
    1. Shen X, Ying H, Qiu Y, et al. Processing of optineurin in neuronal cells. J Biol Chem. 2011;286:3618–3629.
    1. Weihl CC. Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis. Curr Alzheimer Res. 2011;8:252–260.
    1. 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;41:1083–1087.
    1. 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;9:986–994.
    1. Laaksovirta H, Peuralinna T, Schymick JC, et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol. 2010;9:978–985.
    1. Saeed M, Siddique N, Hung WY, et al. Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology. 2006;67:771–776.
    1. Slowik A, Tomik B, Wolkow PP, et al. Paraoxonase gene polymorphisms and sporadic ALS. Neurology. 2006;67:766–770.
    1. 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;78:984–986.
    1. Valdmanis PN, Kabashi E, Dyck A, et al. Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden. Neurology. 2008;71:514–520.
    1. Ticozzi N, LeClerc AL, Keagle PJ, et al. Paraoxonase gene mutations in amyotrophic lateral sclerosis. Ann Neurol. 2010;68:102–107.

Source: PubMed

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