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Case Reports
. 2007 Dec;78(12):1411-3.
doi: 10.1136/jnnp.2007.121137. Epub 2007 Aug 6.

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia

M Cannella, T Martino, M Simonelli, A Ciammola, R Gradini, A Ciarmiello, F Gianfrancesco, F Squitieri
Case Reports

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia

M Cannella et al. J Neurol Neurosurg Psychiatry. 2007 Dec.
No abstract available

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Conflict of interest statement

Competing interests: None.

References

    1. Laplanche J L, El Hachimi K H, Durieux I.et al Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Brain 19991222375–2386. - PubMed
    1. Croes E A, Theuns J, Houwing‐Duistermaat J J.et al Octapeptide repeat insertions in the prion protein gene and early onset dementia. J Neurol Neurosurg Psychiatry 2004751166–1170. - PMC - PubMed
    1. Beck G, Kawano T, Naba I.et al A case with a 120 base pair insertional mutation in the prion protein gene the first case in Japan. J Neurol Neurosurg Psychiatry 200576756–758. - PMC - PubMed
    1. Goldfarb L G, Brown P, McCombie W R.et al Transmissible familial Creutzfeldt–Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA 19918810926–10930. - PMC - PubMed
    1. Origin of extra prion repeat unit (online) Available at: http://www.mad‐cow.org/prion_repeat_insertion.html (accessed 19 September 2007)

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