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Case Reports
. 2007 Mar;78(3):321-3.
doi: 10.1136/jnnp.2006.104372.

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

T Kovács  1 , J A Beck, M I Papp, P L Lantos, Z Arányi, I G Szirmai, M Farsang, A Stuke, A Csillik, J Collinge
Affiliations
Case Reports

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

T Kovács et al. J Neurol Neurosurg Psychiatry. 2007 Mar.

Abstract

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.

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Conflict of interest statement

Competing interests: None declared.

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