Neurobiology of Aging
Volume 30, Issue 5 , Pages 752-758 , May 2009

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

  • Anna Bersano

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Roberto Del Bo

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Costanza Lamperti

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Serena Ghezzi

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Gigliola Fagiolari

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Francesco Fortunato

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Elena Ballabio

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Maurizio Moggio

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Livia Candelise

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Daniela Galimberti

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Roberta Virgilio

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Silvia Lanfranconi

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Yvan Torrente

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Marinella Carpo

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • ,
  • Nereo Bresolin

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • Centre of Excellence on Neurodegenerative Diseases, University of Milan, Milan, Italy
    • IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy
    • ,
  • Giacomo P. Comi

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • Centre of Excellence on Neurodegenerative Diseases, University of Milan, Milan, Italy
    • ,
  • Stefania Corti

      Affiliations

    • Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy
    • Corresponding Author InformationCorresponding author. Tel.: +39 0255033817; fax: +39 0250320430.

Received 21 March 2007 ,Revised 17 July 2007 ,Accepted 14 August 2007.

References 

  1. Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 2006;442:916–919
  2. Bazzi P, Moggio M, Prelle A, Sciacco M, Messina S, Barbieri S, et al. Critically ill patients: immunological evidence of inflammation in muscle biopsy. Clin. Neuropathol. 1999;18:23–30
  3. Del Bo R, Comi GP, Bresolin N, Castelli E, Conti E, Degiuli A, et al. The apolipoprotein E epsilon4 allele causes a faster decline of cognitive performances in Down's syndrome subjects. J. Neurol. Sci. 1997;145:87–91
  4. Del Bo R, Baron P, Pelle A, Serafini M, Moggio M, Fonzo AD, et al. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion body myopathy. Muscle Nerve. 2003;28:113–117
  5. DeLaBarre B, Brunger AT. Complete structure of p97/valosin-containing protein reveals communication between nucleotide domains. Nat. Struct. Biol. 2003;10:856–863
  6. Dubowitz V. Muscle Biopsy, A Practical Approach. second ed.. London: Bailliere Tindal; 1985;
  7. Guyant-Marechal L, Laquerriere A, Duyckaerts C, Dumanchin C, Bou J, Dugny F, et al. Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology. 2006;67:644–651
  8. Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, et al. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology. 2005;65:1304–1305
  9. Hirabayashi M, Inoue K, Tanaka K, Nakadate K, Ohsawa Y, Kamei Y, et al. VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration. Cell Death Differ. 2001;8:977–984
  10. Hubbers CU, Clemen CS, Kesper K, Boddrich A, Hofmann A, Kamarainen O, et al. Pathological consequences of VCP mutations on human striated muscle. Brain. 2007;130:381–393
  11. Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, et al. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol. Genet. Metab. 2001;74:458–475
  12. Mizuno Y, Hori S, Kakizuka A, Okamoto K. Vacuole-creating protein in neurodegenerative diseases in humans. Neurosci. Lett. 2003;343:77–80
  13. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51:1546–1554
  14. Prelle A, Rigoletto C, Moggio M, Sciacco M, Comi GP, Ciscato P, et al. Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle. J. Neurol. Sci. 1996;140:132–136
  15. Schroder R, Watts GD, Mehta SG, Evert BO, Broich P, Fliessbach K, et al. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann. Neurol. 2005;57:457–461
  16. Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Natl. Acad. Sci. U.S.A. 1998;95:7737–7741
  17. Watts GD, Thorne M, Kovach MJ, Pestronk A, Kimonis VE. Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes. Neuromuscul. Disord. 2003;13:559–567
  18. Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat. Genet. 2004;36:377–381
  19. Weihl CC, Dalal S, Pestronk A, Hanson PI. Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. Hum. Mol. Genet. 2006;15:189–199

PII: S0197-4580(07)00339-9

doi: 10.1016/j.neurobiolaging.2007.08.009

Neurobiology of Aging
Volume 30, Issue 5 , Pages 752-758 , May 2009

Article Tools

* Image Usage & Resolution