The young woman was 33 when she died in June 2019, reports The New England Journal of Medicine this July 2. She succumbed to this very rare disease, which affects 100 to 150 people a year in France: a prion disease, that of Creutzfeldt-Jakob. But what does it consist of?
The young woman is 24 years old, she works at the National Institute of Agronomic Research (INRA) and more particularly on prions. It is a “pathological protein” like explains Le Monde, it is not a virus or bacteria. This is the same protein that causes mad cow disease. While manipulating brain samples from mice infected with this bovine prion, she cut her finger. Seven and a half years later, she developed Creutzfeldt-Jakob disease and died a few months later.
How does it arise?
Creutzfeldt-Jakob disease is an encephalopathy, a neurodegenerative disease. She can be caused by three factors: genetic, infectious or sporadic. The first form, genetic, is due to a mutation in the gene coding for the prion protein, such asexplains Inserm. “In the neurons of the brain, the prion protein can become pathogenic by changing its three-dimensional conformation: it folds up on itself very tightly, which makes it hydrophobic, poorly soluble and resistant to degradation. It is then called the “scrapie” prion protein (PrPsc).“
The infectious cause follows a contamination, it is the case of the young woman who died following the accident in the laboratory which is supposed to be at the origin of the disease. She can also be transmitted through consumption of contaminated beef. Finally, the sporadic form (the most common, 85% of cases) generally occurs after the age of 60 and cannot really be explained, it is neither due to an infection nor to a mutation.
What are the symptoms of Creutzfeldt-Jakob?
The Creutzfeldt-Jakob disease usually begins with insomnia and anxiety. Quite quickly, memory, orientation and language disorders occur. Then come the myoclonus (muscle spasms), epilepsy, tremors, balance disorders… It is diagnosed via an MRI or blood tests, it is more difficult to confirm when it is an infectious variant. But the certainty of the disease can only be established post-mortem via a brain examination.
Like two other prion diseases, fatal familial insomnia and Gerstmann-Straüssler-Scheinker syndrome, there is no cure for MJC. It evolves rapidly and leads to death, despite advances in medical research.
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