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Creutzfeldt-Jakob Disease: A Rare, Insidious, and Still Uncurable Disease
La malattia di Creutzfeldt-Jakob (CJD) è tra le più temute all’interno del panorama delle malattie neurodegenerative. La sua rarità purtroppo non la rende meno devastante: le persone colpite sperimentano un rapido declino cognitivo e fisico, e i familiari spesso si trovano impreparati, non sapendo a chi rivolgersi per un aiuto efficace.
Causes and characteristics
Prions: CJD is caused by abnormal prion proteins (prions) that replicate uncontrollably, progressively damaging the brain.
Forms of the disease: It can be sporadic (the most common), genetic (hereditary) or acquired (linked to specific external circumstances, such as medical procedures or, in the past, “mad cow” disease).
Rarity: The incidence is approximately 1-2 cases per million people per year, making it difficult to attract large funding, despite the high mortality rate.
Sintomi e decorso
Initial stage: mild memory changes, balance difficulties, personality and mood changes.
Advanced stage: rapid dementia, involuntary movements (myoclonus), loss of motor functions, up to total dependence.
Outcome: In most cases, the disease leads to death within a few months to a couple of years of diagnosis. There is currently no treatment that can stop or reverse the brain damage.
Research challenges and needs
Studying CJD requires significant expertise and resources, as prions behave differently than viruses or bacteria. The complexity of this disease makes it particularly important to support specialized research centers, such as the IRCCS Mario Negri or the IRCCS Neurologico "Carlo Besta", as well as non-profit organizations such as the "Prion Alliance", which focus precisely on these prion diseases.
