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Familial prion disease in a Hungarian family with a novel 144-base pair insertion in the prion protein gene
  1. T Kovács1,
  2. J A Beck2,
  3. M I Papp1,
  4. P L Lantos3,
  5. Z Arányi1,
  6. I G Szirmai1,
  7. M Farsang1,
  8. A Stuke4,
  9. A Csillik1,
  10. J Collinge2
  1. 1Department of Neurology, Semmelweis University, Budapest, Hungary
  2. 2MRC Prion Unit, Department of Neurodegenerative Disease, The National Hospital for Neurology and Neurosurgery, London, UK
  3. 3Department of Neuropathology, Institute of Psychiatry, London, UK
  4. 4German Primate Center, Göttingen, Germany
  1. Correspondence to:
 Dr T Kovács
 Department of Neurology, Semmelweis University, Budapest, Balassa u. 6., H-1083 Hungary; tibor{at}


About 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.

  • OPRI, octapeptide repeat insertions
  • PCR, polymerase chain reaction
  • PRP, prion protein

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  • Funding: The work of TK is supported by the Bolyai Fellowship of the Hungarian Academy of Sciences and by the Hungarian Scientific Research Fund (OTKA) grant T 046847.

  • Competing interests: None declared.

  • Informed consent was obtained from the patients for publication of their details in this paper.