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.
