Neurobiology of Aging
Volume 30, Issue 8 , Pages 1272-1275 , August 2009

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

  • Adriano Chiò

      Affiliations

    • ALS Center, Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy
    • These authors contributed equally to this work.
    • Corresponding Author InformationCorresponding author. Tel.: +39 0116335439; fax: +39 0116963487.
    • ,
  • Gabriella Restagno

      Affiliations

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

      Affiliations

    • Molecular Genetics Unit, Department of Clinical Pathology, ASO, O.I.R.M.-S.Anna, Turin, Italy
    • ,
  • Irene Ossola

      Affiliations

    • Molecular Genetics Unit, Department of Clinical Pathology, ASO, O.I.R.M.-S.Anna, Turin, Italy
    • ,
  • Andrea Calvo

      Affiliations

    • ALS Center, Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy
    • ,
  • Gabriele Mora

      Affiliations

    • ALS Center, Salvatore Maugeri Foundation, Milano, Italy
    • ,
  • Mario Sabatelli

      Affiliations

    • Neurological Institute, Catholic University and I.CO.M.M. Association for ALS Research, Rome, Italy
    • ,
  • Maria Rosaria Monsurrò

      Affiliations

    • Department of Neurological Sciences, Second University of Naples, Italy
    • ,
  • Stefania Battistini

      Affiliations

    • Department of Neuroscience, Neurology Section, University of Siena, Siena, Italy
    • ,
  • Jessica Mandrioli

      Affiliations

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

      Affiliations

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

      Affiliations

    • Department of Clinical Neurosciences, University of Palermo, Italy
    • ,
  • Jennifer Schymick

      Affiliations

    • Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD, USA
    • ,
  • Bryan J. Traynor

      Affiliations

    • Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD, USA
    • ,
  • Vincenzo La Bella

      Affiliations

    • Department of Clinical Neurosciences, University of Palermo, Italy
    • ,
  • the ITALSGEN Consortium

      Affiliations

    • See Appendix A for the other members of ITALSGEN.

Received 29 April 2009 ,Accepted 1 May 2009.

References 

  1. Brooks BR, Miller RG, Swash M, Munsat TL World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–299
  2. 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
  3. 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
  4. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62
  5. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008;319:1668–1672
  6. Vance C, Rogelj B, Hortobágyi 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(09)00160-2

doi: 10.1016/j.neurobiolaging.2009.05.001

Neurobiology of Aging
Volume 30, Issue 8 , Pages 1272-1275 , August 2009

Article Tools

* Image Usage & Resolution