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Familial frontotemporal dementia associated with the novel MAPT mutation T427M

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References

  1. Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amato CJ, Gilman S (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol 41:706–715

    Article  PubMed  CAS  Google Scholar 

  2. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, HouldenH, Pickering- Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Kuei L, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd P, Hayward N, Kwok JBJ, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutnik P (1998) Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393:702–705

    Article  PubMed  CAS  Google Scholar 

  3. Poorkai P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 43:815–825

    Google Scholar 

  4. Spillantini MG, Murrel JR, Goedert M, Farlow MR, Klug A, Ghetti B (1998) Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 95:7737–7741

    PubMed  CAS  Google Scholar 

  5. Ghetti B, Hutton M, Wszolek Z (2003) Frontotemporal dementia and parkinsonism linked to chromosome 17 with tau gene mutations (FTDP-17T). In: Dickson D (ed) Neurodegeneration: the molecular pathology of dementia and movement disorders. Basel, Switzerland: ISN Neuropath Press, pp 86–102

  6. Brazzelli M, Capitani E, Della Sala S, Spinnler H, Zuffi M (1994) A neuropsychological instrument adding to the description of patients with suspect cortical dementia: the Milan overall dementia assessment. J Neurol Neurosurg Psychiatry 57:1510–1517

    Article  PubMed  CAS  Google Scholar 

  7. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kersatz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF (1998) Frontotemporal lobe degeneration: A consensus on clinical diagnostic criteria. Neurology 51:1546–1554

    PubMed  CAS  Google Scholar 

  8. Murrel JR, Spillantini MG, Zolo P, Guazzelli M, Smith MJ, Hasegawa M, Redi F, Crowther A, Pietrini P, Ghetti B, Goedert M (1999) Tau gene mutation G389R causes a tauopathy with abundant Pick body-like inclusions and axonal deposits. J Neuropathol Exp Neurol 58:1207–1226

    Google Scholar 

  9. Reed LA, Grabowski TJ, Schmidt ML, Morris JC, Goate A, Solodkin A, Van Hoesen GW, Schelper RL, Talbot CJ, Wragg MA, Trojanowski JQ (1997) Autosomal dominant dementia with widespread neurofibrillary tangles. Ann Neurol 42:564–572

    Article  PubMed  CAS  Google Scholar 

  10. van Swieten JC, Stevens M, Rosso SM, Rizzu P, Joosse M, de Konig I, Kamphorst W, Ravid R, Spillantini MG, Niermeijer MF, Heutnik P (1999) Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Ann Neurol 46:617–626

    Article  PubMed  CAS  Google Scholar 

  11. Ostojic J, Elfgren C, Passant U, Nilsson K, Gustafson L, Lannfelt L, Froelich Fabre S (2004) The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy. Dement Geriatr Cogn Disorder 17:298–301

    CAS  Google Scholar 

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Correspondence to G. Giaccone.

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Giaccone, G., Rossi, G., Farina, L. et al. Familial frontotemporal dementia associated with the novel MAPT mutation T427M. J Neurol 252, 1543–1545 (2005). https://doi.org/10.1007/s00415-005-0879-8

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  • DOI: https://doi.org/10.1007/s00415-005-0879-8

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