HUNTINGTON'S DISEASE

Abstract

Huntingtonova bolest predstavlja nasljednu (autosomno-dominantnu) progresivnu i neumitno fatalnu neurodegenerativnu bolest, koja dovodi do propadanja i smrti živčanih stanica u mozgu. Mutacija u genu huntingtin sastoji se od višestrukih ponavljanja nukleotidnih baza citozina, adenina i gvanina, a mutirani gen se prenosi na 50% potomaka što označava autosomno dominantno nasljeđivanje. Mutirani huntingtin gen dovodi do proizvodnje mutiranog proteina Huntingtin koji se postupno nakuplja unutar moždanih stanica uzrokujući oštećenje i staničnu smrt u određenim područjima mozga, sa predilekcijom u bazalnim ganglijima. Trijada simptoma u vidu nevoljnih pokreta, kognitivnih poremećaja te psihijatrijskih manifestacija su glavno obilježje u kliničkoj slici bolesti.Tijek bolesti je neumitno progresivan, te dovodi do smrti,prosječno oko 15 godina od samog početka.Dijagnoza se temelji na pozitivnoj obiteljskoj anamnezi, karakterističnim kliničkim nalazima i genteskom testiranju ;otkrivanju trinukleotidnih CAG ponavljanja u genu za huntingtin protein (>35 ponavljanja). Liječenje je simptomatsko te najčešće usmjereno na glavne simptome, koreju te psihijatarske poremećaje poput depresije i anksioznosti. Glavni cilj liječenja je poboljšati kvalitetu života te postponirati pojavu medicinskih komplikacija. Progresija bolesti dovodi pacijenta do potpune ovisnosti u svakodnevnom životu, što dovodi do potrebe za potpunu skrb pacijenta, te je neophodna multidisciplinarna zdravstvena njega i potpora, kako za oboljelog tako i za obitelji koje ujedno snosi i najveći teret bolesti.Posebnu važnost ima i genteska komponenta bolesti,koja za sobom povlači specifične implikacije za cijelu obitelj.Huntington's disease is an inherited (autosomal-dominant) progressive and inevitably fatal neurodegenerative disease, which leads to the destruction and death of nerve cells in the brain. A mutation in the huntingtin gene consists of multiple repetitions of the nucleotide bases of cytosine, adenine and guanine, and the mutated gene is transmitted to 50% of offspring indicating autosomal dominant inheritance. The mutated huntingtin gene leads to the production of a mutated Huntingtin protein that gradually accumulates within brain cells causing damage and cell death in certain areas of the brain, with predilection in the basal ganglia. The triad of symptoms in the form of involuntary movements, cognitive disorders and psychiatric manifestations are the main features in the clinical picture of the disease. The course of the disease is unmistakably progressive, leading to death, on average, about 15 years from the beginning. The treatment is symptomatic and usually focuses on the main symptoms, chorea and psychiatric disorders such as depression and anxiety. The main goal of treatment is to improve the quality of life and to postpone the occurrence of medical complications. The progression of the disease leads the patient to complete dependence in daily life, leading to the need for complete patient care, and multidisciplinary health care and support is needed for both the patient and the families who bear the brunt of the disease. disease, which entails specific implications for the whole family