Összefoglaló. Az elmúlt évtizedekben a várható élettartam emelkedésével drámai mértékben nőtt a demencia előfordulásának gyakorisága, melynek hátterében leggyakrabban az Alzheimer-kór áll. A rendkívül ígéretes, biomarkereken, agyi képalkotáson és mesterséges intelligencián alapuló megközelítéseknek köszönhetően egyre szélesebb körű információink vannak a betegség kialakulásáról és lefolyásáról, új kapukat nyitva ezzel a demencia korai diagnózisa és a személyre szabott terápia felé. Míg az új kutatási irányzatok előnye vitathatatlan, a nagy mennyiségű kutatási adat kezelése, illetve a betegség korai szakaszban történő azonosítása több biztonsági kérdést felvet. A korai diagnózis mellett egyre nagyobb hangsúly helyeződik az intervencióra, a demenciára hajlamosító tényezőkbe történő beavatkozás által.
Summary. As a consequence of increasing life expectancy, the number of those living with dementia is rising. While Alzheimer’s disease (AD) constitutes the most common cause of dementia, the origin of AD is unknown. Furthermore, in the absence of effective treatment, therapy focuses on the cognitive and behavioural symptoms of the disease, and the wellbeing of the patient. AD is characterised by a pronounced impairment experienced in one or more cognitive domains, and the criterion of the diagnosis is the presence of aggregated proteins in the brain leading to neuron death, and eventually to the loss of cognitive abilities.
As a result of the latest technological advances, several biological markers (biomarkers) of AD pathology were identified. The biomarkers can be obtained using positron emission tomography or measured from cerebrospinal fluid, and lately from blood serum and plasma as well. Magnetic resonance imaging provides an important measure of brain atrophy, a biomarker of neurodegeneration and neuronal injury. The structure of the brain shows significant alterations as a function of neuronal loss, with cortical thinning and tissue density changes, mainly starting from the medial temporal lobes (also including the hippocampus playing a prominent role in memory functions), and extending to the temporoparietal regions, with observed changes in the activity of the different functional brain networks as well.
A major challenge in defeating AD is that in most cases, the disease is recognised subsequent to the appearance of the decline in cognitive abilities, hampering everyday life. Previous studies identified a preclinical stage of AD, where the biomarkers indicative of the disease are present in the absence of detectable cognitive symptoms. This early, preclinical stage – with the use of artificial intelligence-based techniques – has been suggested to be a promising window for the early detection of the disease, and also for the prediction of individual disease trajectories, allowing for the thorough planning of patient management. While the benefit of the early diagnosis is unequivocal, it raises a number of important ethical and safety issues.
Besides the tremendous effort of developing effective medical treatments, the importance of intervention stands in the centre of scientific interest. The proposed prevention and intervention methods target the potentially modifiable risk factors of dementia, encouraging engagement in stimulating everyday activities and healthy lifestyle, to preserve longevity.
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