226
Views
22
CrossRef citations to date
0
Altmetric
Research Article

FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population

, &
Pages 118-123 | Received 25 Aug 2010, Accepted 06 Nov 2010, Published online: 06 Dec 2010

References

  • Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, van der Burg CR, Russ C, . Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323:1205–8.
  • Vance C, Rogelj B, Hortobágyi T, de Vos KJ, Nishimura AL, Sreedharan J, . Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323:1208–11.
  • Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, . Mutations in FUS cause FALS and SALS in French and French-Canadian populations. Neurology. 2009;73:1176–9.
  • Ticozzi N, Silani V, LeClerc AL, Keagle P, Gellera C, Ratti A, . Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. Neurology. 2009;73:1180–5.
  • Drepper C, Herrmann T, Wessig C, Beck M, Sendtner M. C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany. Neurobiol Aging 2009 Dec 15. (Epub ahead of print); DOI: 10.1016/j.neurobiolaging.2009.11.017.
  • Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, . Traynor BJ, La Bella V; ITALSGEN Consortium. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging. 2009;30: 1272–5.
  • Yan J, Deng H-X, Siddique N, Fecto F, Chen W, Yang Y, . Frameshift and novel FUS mutations in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology. 2010;75:807–14.
  • Zheng H, Zeng Y, Fang D, Guo X, Shang H. Mutations of FUS/TLS mutations in a large Chinese pedigree with amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009; 10 (Suppl 1):38. (Abstract). 20th International Symposium on ALS/MD, Berlin 2009.
  • Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, . FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. J Neurol Neurosurg Psychiatry. 2010;81:639–45.
  • van Damme PV, Goris A, Race V, Hersmus N, Dubois B, Bosch LV, . The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS. Eur J Neurol. 2010;17:754–6.
  • de Jesus-Hernandez M, Kocerha J, Finch N, Crook R, Baker M, Desaro P, . De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. Hum Mutat. 2010;31:1377–89.
  • Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, . Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol. 2010;67:455–61.
  • Suzuki N, Aoki M, Warita H, Kato M, Mizuno H, Shimakura N, . FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. J Hum Genet. 2010; 55:252–4.
  • Corrado L, del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, . Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet. 2010;47:190–4.
  • Rademakers R, Stewart H, de Jesus-Hernandez M, Krieger C, Graff-Radford N, Fabros M, . FUS gene mutations in familial and sporadic amyotrophic lateral sclerosis. Muscle Nerve. 2010;42:170–6.
  • Chiò A, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L, . A de novo missense mutation of the FUS gene in a ‘true’ sporadic ALS case. Neurobiol Aging. 2010 Jul 1. (Epub ahead of print); DOI: 10.106/j.neurobiolaging. 2010.05.016.
  • Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, . FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2010 Feb 4. (Epub ahead of print); DOI: 10.106/j.neurobiolaging.2009.12.020.
  • Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, . SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet. 2010;47:554–60.
  • Groen E, van Es M, van Vught P, van Roekel H, Spliet W, Veldink J, . Screening for FUS mutations in amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;10 (Suppl 1):38–9. (Abstract). 20th International Symposium on ALS/MD, Berlin 2009.
  • Gamez J, Corbera-Bellalta M, Nogales G, Raguer N, García-Arumí E, Badia-Canto M, . Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1? J Neurol Sci. 2006;247:21–8.
  • van Langenhove T, van der Zee J, Sleegers K, Engelborghs S, van den Berghe R, Gijselinck I, . Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology. 2010;74:366–71.
  • Waibel S, Neumann M, Rabe M, Meyer T, Ludolph AS. Novel missense and truncating mutations in FUS/TLS in familial ALS. Neurology. 2010;75:815–7.
  • van Es MA, Dahlberg C, Birve A, Veldink JH, van den Berg LH, Andersen PM. Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2010;81:562–6.
  • Tateishi T, Hokonohara T, Yamasaki R, Miura S, Kikuchi H, Iwaki A, . Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol. 2010;119:355–64.
  • Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the Cu/Zn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006;6:37–46.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.