The death of the scientist Franc Llorens, who studied Creutzfeldt-Jakob disease in a Bellvitge laboratory, is a mystery.
The biochemist, who died in 2022 at only 45 years old, began to manifest symptoms compatible with this disease two years earlier, a fatal, degenerative and rare neurological disorder. It is estimated to affect one person in a million per year worldwide and, mostly, adults aged 65 and over.
Creutzfeldt-Jakob disease, caused by a protein called prion (PrP), is a brain disorder that can cause death in a short time and its evolution is very rapid. The symptoms are similar to those of other neurological diseases such as dementia or Alzheimer's, but it develops more quickly.
Creutzfeldt-Jakob disease is part of a large group of human and animal diseases called transmissible spongiform encephalopathies. The cause of Creutzfeldt-Jakob disease and other similar diseases is abnormal mutations of a type of protein called prion that, when altered, becomes infectious and causes damage. Specifically, it causes a deterioration of brain tissue, affecting the ability of other proteins to function.
The risk of contracting the disease is low and it is not transmitted through contact. Currently, there are three types of transmission: random, hereditary and exposure to infected tissues. In most cases, it arises for no known reason. In the case of hereditary disease, between 5 and 15% of cases have a family history of the disease or have positive results in a test for a genetic mutation. Finally, exposure to infected or contracted tissues may result from some manipulation of diseased tissues or from consumption of beef infected with mad cow disease (bovine spongiform encephalopathy).
The most common initial symptoms are lack of muscle coordination, memory loss and confusion, the latter two resembling those of other dementias. As the disease progresses, they often suffer from involuntary movements, personality disorders, mood disturbances and dementia.
The only way to confirm the diagnosis of the disease with certainty is by analyzing brain tissue extracted through a biopsy. The doctor usually also uses other tests such as electroencephalogram, magnetic resonance imaging or analysis of cerebrospinal fluid. However, discovering how he was infected and how he died was a scientist from Bellvitge, since at the time of his death no autopsy was performed.
At present, there is no effective treatment to end Creutzfeldt-Jakob disease. The only alternative is to minimize the symptoms and make the patient suffer as little as possible.
Patients are unable to care for themselves for three to six months after the onset of symptoms. The disorder is fatal in a short period of time, some in a matter of a few months and other people survive up to one or two years.
