• J. Neurol. Neurosurg. Psychiatr. · Mar 2007

    Case Reports

    Familial prion disease in a Hungarian family with a novel 144-base pair insertion in the prion protein gene.

    • T Kovács, J A Beck, M I Papp, P L Lantos, Z Arányi, I G Szirmai, M Farsang, A Stuke, A Csillik, and J Collinge.
    • Department of Neurology, Semmelweis University, Budapest, Balassa u. 6., H-1083 Hungary. tibor@neur.sote.hu
    • J. Neurol. Neurosurg. Psychiatr. 2007 Mar 1; 78 (3): 321-3.

    AbstractAbout 15% of human prion diseases are inherited, and are associated with point or insertional mutations of the prion protein gene (PRNP). Four families with six octapeptide repeat insertions (OPRI) in the PRNP gene have been described in the literature so far. Here we report two cases in a Hungarian family with a new six OPRI (R1R2R2R3R2R3gR3R2R2R3R4) in the PRNP gene. The clinical features (progressive ataxia, dementia and anosmia), the age of onset and the duration of disease were almost identical. In addition to the cerebellar and parahippocampal pathological changes already described, we also found deposits of pathological prion protein in the olfactory system.

      Pubmed     Full text   Copy Citation     Plaintext  

      Add institutional full text...

    Notes

     
    Knowledge, pearl, summary or comment to share?
    300 characters remaining
    help        
    You can also include formatting, links, images and footnotes in your notes
    • Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.
    • Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.
    • Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.
    • Links can be included with: [my link to pubmed](http://pubmed.com)
    • Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
    • For footnotes use [^1](This is a footnote.) inline.
    • Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..

    hide…