Aspectos etiopatogênicos da Doença de Huntington

A doenca de Huntington (DH) e um disturbio hereditario autossomico dominante, que esta relacionado a expansao das repeticoes de CAG (citosina-adenina-guanina) no braco curto do cromossomo 4, o que leva a formacao de uma proteina mutante associada, principalmente, a destruicao neuronal do estriado. Manifesta-se por transtornos motores, cognitivos e neuropsicologicos, evoluindo progressivamente para estado demencial grave. A patogenese da doenca ainda apresenta pontos obscuros. No entanto, recentes investigacoes tem possibilitado maior entendimento de sua origem e evolucao, assim como de outras doencas neurodegenerativas Huntington's disease is a hereditary autosomal dominant disorder which occurs due to the expansion of the repetitions CAG on the short arm of chromosome 4, which leads to the formation of a mutant protein itself associated principally to the destruction of neuronal of the striated tissue. It manifests through motor, cognitive and neuropsychological disorders where it evolves progressively to a serious demential state. The pathogenesis of this disease still presents obscure points although recent investigations made it possible to understand it better in its origin and evolution, the same as with other neurodegenerative diseases