Early-onset Alzheimer disease

Abstract

Demencija je progresivno propadanje intelektualnih funkcija. Najčešći uzrok demencije je Alzheimerova bolest. Ova bolest može nastati u bilo kojoj dobi, ali prvenstveno zahvaća osobe starije životne dobi. Osobe koje obole od demencije u ranijoj životnoj dobi (prije 45.godine života) - njih 30% dijagnosticirane su kao neurodegenerativne bolesti uz rijetku pojavu Alzheimerove bolesti. Alzheimerova bolest ranog početka zahvaća radno sposobnu populaciju i zbog toga predstavlja veliki javnozdravstveni, medicinski i socioekonomski problem. Alzheimerova bolest je multifaktorijalna bolest u kojoj dolazi do degeneracije neuronskih puteva i krvnih žila s formacijom abnormalno agregiranih proteina poput β-amiloida i tau. Postoje dvije hipoteze koje opisuju patofiziološke promjene u Alzheimerovoj bolesti ranog početka, a to su: „amiloidna hipoteza“ i „tau hipoteza“. Ova bolest je izrazito kompleksna bolest koja nastaje zbog djelovanja nekoliko gena i rizika okoliša. Nasljedni oblik Alzheimerove bolesti još se naziva i Alzheimerova bolest ranog početka. 1% ukupno oboljelih od ove bolesti spada u grupu nasljednog oblika Alzheimerove bolesti. Geni koji su značajni za rani početak su : APP, presenilin 1 (PSEN1) i (PSEN2). Razvoj novih dijagnostičkih metoda koji će omogućiti ranije i točnije otkrivanje AD izuzetno je važan. Smatra se da će rane dijagnostičke metode omogućiti dijagnosticiranje bolesti u ranoj fazi koja još neće imati razvijene značajne promjene u mozgu. Današnje liječenje AD je simptomatsko. Još uvijek su nam mehanizmi nastanka ove bolesti nepoznati pa zbog toga nije nađena primjerena terapija koja bi liječila ili čak izliječila ovu bolest.Dementia is a progressive decay of intellectual functions. The most common cause of dementia is Alzheimer's disease. This illness can occur at any age, but primarily affects elders. People who are diagnosed with dementia early in life (prior to 45 years of life) - are diagnosed as neurodegenerative diseases with rare occurrence of Alzheimer's disease. Early Alzheimer's disease affects a working-age population and is therefore a major public health, medical and socioeconomic problem. Alzheimer's disease is a multifactorial disease in which degeneration of neuronal pathways and blood vessels occurs with the formation of abnormally aggregated proteins such as β-amyloid and tau. There are two hypotheses that describe the pathophysiological changes in Alzheimer's early disease, which are: "amyloid hypothesis" and "tau hypothesis".This disease is a very complex disease caused by the action of several genes and the risk of the environment. The inherited form of Alzheimer's disease is also called early-onset Alzheimer's disease. 1% of the total affected by this disease belongs to the group of hereditary Alzheimer's disease. The genes that are important for early start are: APP, presenilin 1 (PSEN1) and (PSEN2). The development of new diagnostic methods that will enable earlier and more accurate detection of AD is extremely important. It is believed that early diagnostic methods are going to be able to diagnose early stage illnesses that will not yet have any significant brain changes. Today's treatment of AD is symptomatic. Mechanisms of the onset of this disease are still unknown and therefore no suitable therapy to treat or even cure this disease has been found