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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 18, 2017 - Issue 5-6
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Young-onset rapidly progressive ALS associated with heterozygous FUS mutation

Marta GromichoInstituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal and Correspondence[email protected]
,
Miguel Oliveira SantosInstituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal and ;Department of Neurosciences and Mental Health, Hospital de Santa Maria – CHLN, Lisbon, Portugal
,
Anabela PintoInstituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal and ;Department of Neurosciences and Mental Health, Hospital de Santa Maria – CHLN, Lisbon, Portugal
,
Ana Pronto-LaborinhoInstituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal and
&
Mamede De CarvalhoInstituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal and ;Department of Neurosciences and Mental Health, Hospital de Santa Maria – CHLN, Lisbon, Portugal
Pages 451-453 | Received 22 Dec 2016, Accepted 13 Feb 2017, Published online: 13 Mar 2017

References

  • Kwiatkowski TJ, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323:1205–8.
  • Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis Type 6. Science. 2009;323:1208–11.
  • Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, et al. FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis. Neurobiol Aging. 2012;33:837.e1–.e5.
  • Hubers A, Just W, Rosenbohm A, Muller K, Marroquin N, Goebel I, et al. De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiol Aging. 2015;36:3117.e1–.e6.
  • Lattante S, Rouleau GA, Kabashi E. TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update. Hum Mutat. 2013;34:812–26.
  • Tarlarini C, Lunetta C, Mosca L, Avemaria F, Riva N, Mantero V, et al. Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis. Eur J Neurol. 2015;22:1474–81.
  • Yan J, Deng HX, Siddique N, Fecto F, Chen W, Yang Y, et al. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology. 2010;75:807–14.
  • Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, et al. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J Med Genet. 2014;51:419–24.
  • Kamaraj B, Rajendran V, Sethumadhavan R, Kumar CV, Purohit R. Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6. J Biomol Struct Dyn. 2015;33:434–44.
  • Dormann D, Haass C. TDP-43 and FUS: a nuclear affair. Trends Neurosci. 2011;34:339–48.

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