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Objawy, patogeneza i dostępne obecnie możliwości leczenia farmakologicznego choroby Huntingtona. Europejska Sieć Choroby Huntingtona

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Author(s): Daniel Zielonka

Journal: Neuropsychiatria i Neuropsychologia
ISSN 1896-6764

Volume: 4;
Issue: 1;
Start page: 10;
Date: 2009;
Original page

Keywords: dynamic mutation | CAG triplets | symptomatic treatment

ABSTRACT
Huntington's disease (HD) is an autosomal-dominant,progressive neurodegenerative disorder witha characteristic phenotype, with incoordination, choreaticmovements and dystonia. In addition, a varietyof psychiatric and behavioural symptoms, along withcognitive decline, contribute significantly to the patient'sdisability. Usually, onset of symptoms is in middle age,when individuals with a mutated IT-15 gene have hadchildren, but the disorder can manifest at any timebetween infancy and senescence. The modified huntingtinin HD, the product of the mutated IT-15 gene, resultsfrom an expanded CAG repeat leading to a polyglutaminestrand of variable length at the N-terminus. Currentopinions concerning the role of mutated huntingtinconcrements in neurons plead against their neurotoxicity.The precise pathophysiological mechanisms of HD arepoorly understood, but research in transgenic animalmodels of the disorder is providing insight into causativefactors and potential aetiological treatments. Becausethere are no effective neuroprotective therapies that delaythe progression of the disease, symptomatic treatmentremains the basis of medical management. Several classesof medications have been used to ameliorate the varioussymptoms of HD, including typical and atypicalneuroleptics, dopamine depleters, antidepressants,antiglutamatergic drugs, GABA agonists, antiepilepticmedications, and botulinum toxin. The selected therapymust be adapted to the needs of each patient, minimizingthe potential adverse effects. Centres of excellence arisingin future from current European Huntington’s DiseaseNetwork (EHDN) Study Sites will take care of treatmentof HD patients and gene carriers, and train doctors inHD treatment.
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