Skip to main content
SpringerLink
Log in

Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia

  • Letter to the Editor
  • Published:
Acta Neuropathologica 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. Bergeron C, Lowe J (2003) Frontotemporal degeneration. In: Dickson D (ed) Neurodegeneration: the molecular pathology of dementia and movement disorders. ISN Neuropath Press, Basel, pp 340–341

  2. Ghetti B, Tagliavini F, Masters CL, Beyreuther K, Giaccone G, Verga L, Farlow MR, Conneally PM, Dlouhy SR, Azzarelli B, Bugiani O (1989) Gerstmann-Sträussler-Scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family. Neurology 39:1453–1461

    PubMed  Google Scholar 

  3. Ghetti B, Piccardo P, Frangione B, Bugiani O, Giaccone G, Young K, Prelli F, Farlow MR, Dlouhy SR, Tagliavani F (1996) Prion protein amyloidosis. Brain Pathol 6:127–145

    PubMed  Google Scholar 

  4. Hardy J, Allsop D (1991) Amyloid deposition as the central event in the etiology of Alzheimer’s disease. Trends Pharmacol Sci 12:383–388

    PubMed  Google Scholar 

  5. Hodges JR, Davies RR, Xuereb JH, Casey B, Broe M, Bak TH, Kril JJ, Halliday GM (2004) Clinicopathological correlates in frontotemporal dementia. Ann Neurol 56:399–406

    PubMed  Google Scholar 

  6. Hsiao K, Dlouhy SR, Farlow MR, Cass C, DaCosta M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB (1992) Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. Nat Genet 1:68–71

    PubMed  Google Scholar 

  7. Ikeda S-I, Yanagisawa N, Glenner GG, Allsop D (1992) Gerstmann-Sträussler-Scheinker disease showing β-protein amyloid deposits in the peripheral regions of PrP-immunoreactive amyloid plaques. Neurodegeneration 1:281–288

    Google Scholar 

  8. Josephs KA, Holton JL, Rossor MN, Godbolt AK, Ozawa T, Strand K, Khan N, Al-Sarraj S, Revesz T (2004) Frontotemporal lobar degeneration and ubiquitin immunohistochemistry. Neuropathol Appl Neurobiol 30:369–373

    PubMed  Google Scholar 

  9. Kitamoto T, Iizuka R, Tateishi J (1993) An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques. Biochem Biophys Res Commun 192:525–531

    PubMed  Google Scholar 

  10. Kitamoto T, Amano N, Terao Y, Nakazato Y, Ishiki T, Mizutani T, Tateishi J (1993) A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. Ann Neurol 34:808–813

    PubMed  Google Scholar 

  11. Nitrini R, Da Silva LST, Rosemberg S, Caramelli P, Carrilho PEM, Lughetti P, Passos-Bueno MR, Zatz M, Albrecht S, LeBlanc A (2001) Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17. Arq Neuropsiquiatr 59:161–164

    PubMed  Google Scholar 

  12. Piccardo P, Dlouhy SR, Lievens PM, Young K, Bird TD, Nochlin D, Dickson DW, Vinters HV, Zimmerman TR, Mackenzie IR, Kish SJ, Ang LC, De Carli C, Pocchiari M, Brown P, Gibbs CJ Jr, Gajdusek DC, Bugiani O, Ironside J, Tagliavini F, Ghetti B (1998) Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity. J Neuropathol Exp Neurol 57:979–988

    PubMed  Google Scholar 

  13. Tranchant C, Sergeant N, Wattez A, Mohr M, Warter JM, Delacourte A (1997) Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation. J Neurol Neurosurg Psychiatry 63:240–246

    PubMed  Google Scholar 

  14. Yamada M, Itoh Y, Fujigasaki H, Naruse S, Kaneko K, Kitamoto T, Tateishi J, Otomo E, Hayakawa M, Tanaka J (1993) A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease. Neurology 43:2723–2724

    Google Scholar 

Download references

Acknowledgements

The authors wish to acknowledge the assistance and contributions of the Canadian CJD Surveillance System.

Author information

Authors and Affiliations

  1. Department of Pathology, Ottawa Hospital, University of Ottawa, Ottawa, Ontario, K1Y 4E9, Canada

    John Woulfe, Andrew Kertesz, Inge Frohn, Sharon Bauer, Peter St. George-Hyslop & Catherine Bergeron

Authors
  1. John Woulfe
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Andrew Kertesz
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Inge Frohn
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Sharon Bauer
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Peter St. George-Hyslop
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Catherine Bergeron
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to John Woulfe.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Woulfe, J., Kertesz, A., Frohn, I. et al. Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia. Acta Neuropathol 110, 317–319 (2005). https://doi.org/10.1007/s00401-005-1054-0

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00401-005-1054-0

Keywords

Search

Navigation