Skip to main content

Advertisement

SpringerLink
Log in

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

  • Letter to the Editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. Mok K, Traynor B, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chiò A, Shatunov A, Boeve BF, Boxer AL, Dejesus-Hernandez M, Mackenzie IR, Waite A, Williams N, Morris HR, Simón-Sánchez J, Van Swieten JC, Heutink P, Restagno G, Mora G, Morrison KE, Shaw PJ, Rollinson PS, Al-Chalabi A, Rademakers R, Pickering-Brown S, Orrell RW, Nalls MA, Hardy J (2011) The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol of Aging (in press)

  2. Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, Mitchell JE, Habgood JJ, De Belleroche J, Xi J, Jongjaroenprasert W, Horvitz HR, Gunnarsson LG, Brown RH Jr (2006) A locus on chromosome 9 confers susceptibility to amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 66:839–844

    Article  PubMed  CAS  Google Scholar 

  3. Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, Sreedharan J, Siddique T, Schelhaas HJ, Kusters B, Troost D, Baas F, De Jong V, Shaw CE (2006) Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 129:868–876

    Article  PubMed  Google Scholar 

  4. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford, NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-Linked FTD and ALS. Neuron (in press)

  5. Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, Van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; The ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (in press)

  6. Claassen DO, Parisi JE, Giannini C, Boeve BF, Dickson DW, Josephs KA (2008) Frontotemporal dementia mimicking dementia with Lewy bodies. Cogn Behav Neurol 21(3):157–163

    Article  PubMed  Google Scholar 

  7. Mendez FM, Lauterbach EC, Sampson SM, ANPA Committee on Research (2008) An evidence-based review of the psychopathology of frontotemporal dementia: a report of the ANPA committee on research. J Neuropsychiatry Clin Neurosci 20(2):130–148

    Article  PubMed  Google Scholar 

  8. McKeith IG, Dickson DW, Lowe J, Emre M, O’Brien JT, Feldman H, Cummings J, Duda JE, Lippa C, Perry EK, Aarsland D, Arai H, Ballard CG, Boeve B, Burn DJ, Costa D, Del Ser T, Dubois B, Galasko D, Gauthier S, Goetz CG, Gomez-Tortosa E, Halliday G, Hansen LA, Hardy J, Iwatsubo T, Kalaria RN, Kaufer D, Kenny RA, Korczyn A, Kosaka K, Lee VM, Lees A, Litvan I, Londos E, Lopez OL, Minoshima S, Mizuno Y, Molina JA, Mukaetova-Ladinska EB, Pasquier F, Perry RH, Schulz JB, Trojanowski JQ, Yamada M, Consortium on DLB (2005) Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 65(12):1863–1872

    Google Scholar 

  9. Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, Feldman H, Hsiung GR, Rutheford N, Laluz V, Whitwell J, Foti D, McDade E, Molano J, Karydas A, Wojtas A, Goldman J, Mirsky J, Sengdy P, DeArmond S, Miller BL, Rademakers R (2011) Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 82(2):196–203

    Article  PubMed  Google Scholar 

  10. Pearson JP, Williams NM, Majounie E, Waite A, Stott J, Newsway V, Murray A, Hernandez D, Guerreiro R, Singleton AB, Neal J, Morris HR (2011) Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 258(4):647–655

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

The study has been approved by the Institutional Review Board of authors’ center.

Conflicts of interest

The authors have no conflicts of interest.

Ethical standards

The patient and his family gave their informed consent prior to their inclusion in the study.

Author information

Authors and Affiliations

  1. Department of Neurology, Azienda Universitaria-Ospedaliera of Cagliari, University of Cagliari, Sst 554, 10126, Monserrato, Cagliari, Italy

    Gianluca Floris, Giuseppe Borghero, Antonino Cannas, Francesca Di Stefano, Emanuela Costantino & Francesco Marrosu

  2. Multiple Sclerosis Center Laboratory, University of Cagliari, Cagliari, Italy

    Maria R. Murru & Maria G. Marrosu

  3. Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA

    Bryan J. Traynor

  4. Department of Neurology, Johns Hopkins Hospital, Baltimore, MD, USA

    Bryan J. Traynor

  5. Laboratory of Molecular Genetics, Azienda Sanitaria Ospedaliera Ospedale Infantile Regina Margherita-Sant’Anna, Torino, Italy

    Maura Brunetti & Gabriella Restagno

  6. Department of Neuroscience, ALS Center, San Giovanni University Hospital and Neuroscience Institute of Torino (NIT), University of Torino, Torino, Italy

    Adriano Chiò

Authors
  1. Gianluca Floris
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Giuseppe Borghero
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Antonino Cannas
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Francesca Di Stefano
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Emanuela Costantino
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Maria R. Murru
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Maura Brunetti
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Gabriella Restagno
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Bryan J. Traynor
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Maria G. Marrosu
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Adriano Chiò
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Francesco Marrosu
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Gianluca Floris.

Additional information

G. Floris and G. Borghero contributed equally to this work.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Floris, G., Borghero, G., Cannas, A. et al. Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?. J Neurol 259, 1749–1751 (2012). https://doi.org/10.1007/s00415-012-6444-3

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-012-6444-3

Keywords

Search

Navigation