CASE HISTORY – December 2018

A case of familial Creutzfeldt-Jakob disease with confirmed PRNP gene mutation

Authors: Janek Vilisaar, Sander Pajusalu, Ülle Murumets, Jüri Hirmo, Ülla Linnamägi

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This case report of a 28-year-old female with progressive dementia and extrapyramidal syndrome illustrates the diagnosis of familial CJD (fCJD), which can be challenging if diagnostic tests, such as electroencephalogram and brain MRI findings do not show typical features of the disease and cerebrospinal fluid 14-3-3 and tau proteins are within normal limits. Family history is important, however, these data were initially limited in this case. This is, to our knowledge, the first case of fCJD with confirmed PRNP mutation (6 octapeptide insertions and codon 129 Met/Met homozygosity as a modifying factor) diagnosed in Estonia. Genetic testing is readily available and helps to confirm the diagnosis in case of such suspicion.