Neurobiology of Aging
Volume 32, Issue 3 , Pages 550.e1-550.e4 , March 2011

FUS mutations in sporadic amyotrophic lateral sclerosis

  • Shiao-Lin Lai

      Affiliations

    • Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
    • Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, Queen Square, London WC1 3BG, UK
    • Chang Gung University College of Medicine and Hospital, Chiayi, Taiwan
    • These authors contributed equally to this work.
    • ,
  • Yevgeniya Abramzon

      Affiliations

    • Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
    • These authors contributed equally to this work.
    • ,
  • Jennifer C. Schymick

      Affiliations

    • Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
    • Department of Clinical Medicine, University of Oxford, Oxford OX1 3QX, UK
    • ,
  • Dietrich A. Stephan

      Affiliations

    • Navigenics, Foster City, CA 94404, USA
    • IGNITE Institute for Individualized Health, Fairfax, VA 22042, USA
    • ,
  • Travis Dunckley

      Affiliations

    • Neurogenomics Division, Translational Genomics Institute (TGEN), Phoenix, AZ 85004, USA
    • ,
  • Allissa Dillman

      Affiliations

    • Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
    • ,
  • Mark Cookson

      Affiliations

    • Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
    • ,
  • Andrea Calvo

      Affiliations

    • Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy
    • ,
  • Stefania Battistini

      Affiliations

    • Department of Neuroscience, Neurology Section, University of Siena, Siena, Italy
    • ,
  • Fabio Giannini

      Affiliations

    • Department of Neuroscience, Neurology Section, University of Siena, Siena, Italy
    • ,
  • Claudia Caponnetto

      Affiliations

    • Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Genoa, Italy
    • ,
  • Giovanni Luigi Mancardi

      Affiliations

    • Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Genoa, Italy
    • ,
  • Rossella Spataro

      Affiliations

    • Department of Clinical Neurosciences, University of Palermo, Italy
    • ,
  • Maria Rosaria Monsurro

      Affiliations

    • Department of Neuroscience, Second University of Naples, Naples, Italy
    • Capodimonte-Hermitage Institute, Naples, Italy
    • ,
  • Gioacchino Tedeschi

      Affiliations

    • Department of Neuroscience, Second University of Naples, Naples, Italy
    • Capodimonte-Hermitage Institute, Naples, Italy
    • ,
  • Kalliopi Marinou

      Affiliations

    • Fondazione Salvatore Maugeri, Milan, Italy
    • ,
  • Mario Sabatelli

      Affiliations

    • Neurological Institute, Catholic University and I.CO.M.M. Association for ALS Research, Rome, Italy
    • ,
  • Amelia Conte

      Affiliations

    • Neurological Institute, Catholic University and I.CO.M.M. Association for ALS Research, Rome, Italy
    • ,
  • Jessica Mandrioli

      Affiliations

    • Department of Neuroscience, S. Agostino-Estense Hospital and University of Modena, Modena, Italy
    • ,
  • Patrizia Sola

      Affiliations

    • Department of Neuroscience, S. Agostino-Estense Hospital and University of Modena, Modena, Italy
    • ,
  • Fabrizio Salvi

      Affiliations

    • Department of Neurology, Center for Diagnosis and Cure of Rare Diseases, Bellaria Hospital, Bologna, Italy
    • ,
  • Ilaria Bartolomei

      Affiliations

    • Department of Neurology, Center for Diagnosis and Cure of Rare Diseases, Bellaria Hospital, Bologna, Italy
    • ,
  • Federica Lombardo

      Affiliations

    • Molecular Genetics Unit, Department of Clinical Pathology, A.S.O. O.I.R.M.-S. Anna, Turin, Italy
    • ,
  • the ITALSGEN Consortium

      Affiliations

    • See Appendix A for the other members of ITALSGEN.
    • ,
  • Gabriele Mora

      Affiliations

    • Fondazione Salvatore Maugeri, Milan, Italy
    • ,
  • Gabriella Restagno

      Affiliations

    • Molecular Genetics Unit, Department of Clinical Pathology, A.S.O. O.I.R.M.-S. Anna, Turin, Italy
    • These authors contributed equally to this work.
    • ,
  • Adriano Chiò

      Affiliations

    • Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy
    • These authors contributed equally to this work.
    • ,
  • Bryan J. Traynor

      Affiliations

    • Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
    • These authors contributed equally to this work.
    • Corresponding Author InformationCorresponding author at: Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, NIA, National Institutes of Health, 35 Convent Drive, Room 1A-1000, Bethesda, MD 20892, USA. Tel.: +1 301 451 7606; fax: +1 301 451 7295.

Received 2 September 2009 ,Revised 8 December 2009 ,Accepted 24 December 2009.

References 

  1. Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum. Mol. Genet. 2000;9:237–247
  2. Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, et al. Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology. 2009;73:1176–1179
  3. Bourbon M, Sun XM, Soutar AK. A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing. Atherosclerosis. 2007;195:e17–e20
  4. Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial “Clinical limits of amyotrophic lateral sclerosis” workshop contributors. J. Neurol. Sci. 1994;124(Suppl.):96–107
  5. Cann HM, de Toma C, Cazes L, Legrand MF, Morel V, Piouffre L, et al. A human genome diversity cell line panel. Science. 2002;296:261–262
  6. Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, et al. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol. Aging. 2009;30:1272–1275
  7. Chiò A, Traynor BJ, Lombardo F, Fimognari M, Calvo A, Ghiglione P, et al. Prevalence of SOD1 mutations in the Italian ALS population. Neurology. 2008;70:533–537
  8. Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, et al. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J. Med. Genet. 2009;(epub ahead of print)
  9. 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;323:1205–1208
  10. Pagani F, Raponi M, Baralle FE. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc. Natl. Acad. Sci. U.S.A. 2005;102:6368–6372
  11. Traynor BJ, Singleton AB. What's the FUS!. Lancet Neurol. 2009;8:418–419
  12. Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology. 2008;70:144–152
  13. 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;323:1208–1211

PII: S0197-4580(10)00005-9

doi: 10.1016/j.neurobiolaging.2009.12.020

Neurobiology of Aging
Volume 32, Issue 3 , Pages 550.e1-550.e4 , March 2011

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