AI Article Synopsis
- Genetic Creutzfeldt-Jakob disease is linked to mutations in the PRNP gene, with only two known families having the specific G114V mutation.
- The case discussed is the first recorded in Europe, involving a patient with no family history who initially showed memory issues related to the hippocampus.
- Despite normal initial tests, elevated tau protein in the cerebrospinal fluid indicated disease progression, emphasizing the need for genetic testing even in cases that appear sporadic.
Article Abstract
Genetic Creutzfeldt-Jakob disease is due to mutations in the PRNP gene. Only two families with a PRNP G114V mutation have been described around the world. We report the first European case, who had no family history and initially presented with isolated deficit in hippocampus-dependent memory. Initial investigations were normal except for elevated total tau protein in the cerebrospinal fluid. He died 4 years after disease onset. This case highlights the diagnostic difficulties posed by genetic Creutzfeldt-Jakob disease, and shows that genetic analyses should be considered even in sporadic cases.
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| http://dx.doi.org/10.1016/j.cortex.2018.08.014 | DOI Listing |
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