ATXN2 polyQ intermediate repeats are a modifier of ALS survival

Neurology

Volumn 84, Issue 3, 2015, Pages 251-258

  Chiò, Adriano ^a,b,c   Calvo, Andrea ^a,b,c   Moglia, Cristina ^a   Canosa, Antonio ^a,b   Brunetti, Maura ^a,b   Barberis, Marco ^a,b   Restagno, Gabriella ^b   Conte, Amelia ^d   Bisogni, Giulia ^d   Marangi, Giuseppe ^d   Moncada, Alice ^d   Lattante, Serena ^d   Zollino, Marcella ^d   Sabatelli, Mario ^d   Bagarotti, Alessandra ^f   Corrado, Lucia ^e   Mora, Gabriele ^g   Bersano, Enrica ^e,h   Mazzini, Letizia ^e,h   Cantello, Roberto ^e  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^f IRCCS   (Italy)

^g Scientific Institute of Milan   (Italy)

^h Azienda Ospedaliera Universitaria Maggiore Della Carita   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

POLYGLUTAMINE; NERVE PROTEIN; PEPTIDE; SCA2 PROTEIN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; ATXN2 GENE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE; GENE REPLICATION; HUMAN; MALE; MULTIVARIATE ANALYSIS; PRIORITY JOURNAL; SURVIVAL; VALIDATION STUDY; CASE CONTROL STUDY; GENETIC SCREENING; GENETICS; ITALY; MIDDLE AGED; MORTALITY;

AGED; AMYOTROPHIC LATERAL SCLEROSIS; CASE-CONTROL STUDIES; COHORT STUDIES; FEMALE; GENETIC TESTING; HUMANS; ITALY; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PEPTIDES;

EID: 84925953333     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001159     Document Type: Article

References (39)

1. Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:285-291.
2. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
3. Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-284.
4. Elden AC, Kim HJ, Hart MP, et al. Ataxin-2 intermediatelength polyglutamine expansions are associated with increased risk for ALS. Nature 2010;466:1069-1075.
5. Daoud H, Belzil V, Martins S, et al. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch Neurol 2011;68:739-742.
6. Corrado L, Mazzini L, Oggioni GD, et al. ATXN-2 CAG repeat expansions are interrupted in ALS patients. Hum Genet 2011;130:575-580.
7. Van Damme P, Veldink JH, van Blitterswijk M, et al. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 2011;76:2066-2072.
8. Lee T, Li YR, Ingre C, et al. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet 2011;20:1697-1700.
9. Chen Y, Huang R, Yang Y, et al. Ataxin-2 intermediatelength polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging 2011;32:1925.e1-1925.e5.
10. Sorarù G, Clementi M, Forzan M, et al. ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion. Neurology 2011;76:2030-2031.
11. Gellera C, Ticozzi N, Pensato V, et al. ATAXIN2 CAGrepeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling. Neurobiol Aging 2012;33: 1847.e15-1847.e21.
12. Gispert S, Kurz A, Waibel S, et al. The modulation of amyotrophic lateral sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis 2012;45:356-361.
13. Conforti FL, Spataro R, Sproviero W, et al. Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis. Neurology 2012;79:2315-2320.
14. Lahut S, Ömür Ö, Uyan Ö, et al. ATXN2 and its neighboring gene SH2B3 are associated with increased ALS risk in the Turkish population. PLoS One 2012;7:e42956.
15. Van Langenhove T, van der Zee J, Engelborghs SV, et al. Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. Neurobiol Aging 2012; 33:1004.e17-1004.e20.
16. Liu X, Lu M, Tang L, et al. ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging 2013;34: 2236.e5-2236.e8.
17. Chiò A, Logroscino G, Hardiman O, et al. Prognostic factors in ALS: a critical review. Amyotr Lateral Scler 2009;10:310-323.
18. Brooks BR, Miller RG, Swash M, et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:293-299.
19. Lattante S, Conte A, Zollino M, et al. Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 2012;79:66-72.
20. Cancel G, Dürr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709-715.
21. Sequeiros J, Seneca S, Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur J Hum Genet 2010;18: 1188-1195.
22. Chiò A, Calvo A, Mazzini L, et al. Extensive genetics of ALS: a population-based study in Italy. Neurology 2012; 79:1983-1989.
23. Phukan J, Elamin M, Bede P, et al. The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study. J Neurol Neurosurg Psychiatry 2012;83:102-108.
24. Diekstra FP, van Vught PW, van Rheenen W, et al. UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol Aging 2012;33:630.e3-630.e8.
25. Chiò A, Mora G, Restagno G, et al. UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. Neurobiol Aging 2013;34:357. e1-357.e5.
26. Blauw HM, van Rheenen W, Koppers M, et al. NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet 2012;21:2497-2502.
27. ALSGEN Consortium, Ahmeti KB, Ajroud-Driss S, et al. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging 2013;34:357.e7-357.e19.
28. Logroscino G, Traynor BJ, Hardiman O, et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry 2010;81:385-390.
29. Farg MA, Soo KY, Warraich ST, et al. Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis. Hum Mol Genet 2013;22:717-728.
30. Nihei Y, Ito D, Suzuki N. Roles of ataxin-2 in pathological cascades mediated by TAR DNA-binding protein 43 (TDP-43) and Fused in Sarcoma (FUS). J Biol Chem 2012;287:41310-41323.
31. van den Heuvel DM, Harschnitz O, van den Berg LH, Pasterkamp RJ. Taking a risk: a therapeutic focus on ataxin-2 in amyotrophic lateral sclerosis? Trends Mol Med 2014;20:25-35.
32. Ross OA, Rutherford NJ, Baker M, et al. Ataxin-2 repeatlength variation and neurodegeneration. Hum Mol Genet 2011;20:3207-3212.
33. Montuschi A, Iazzolino B, Calvo A, et al. Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy. J Neurol Neurosurg Psychiatry Epub 2014 Apr 25.
34. Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012;11:323-330.
35. Kenna KP, McLaughlin RL, Byrne S, et al. Delineating the genetic heterogeneity of ALS using targeted highthroughput sequencing. J Med Genet 2013;50:776-783.
36. van Blitterswijk M, van Es MA, Hennekam EA, et al. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet 2012;21:3776-3784.
37. Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr Neurol Neurosci Rep 2006;6:37-46.
38. Schöls L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304.
39. van Blitterswijk M, Mullen B, Heckman MG, et al. Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiol Aging 2014;35:2421.e13-2421.e17.