2021
DOI: 10.33448/rsd-v10i3.13138
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Neuropatologia da ataxia espinocerebelar tipo 3 (SCA3) – a doença de Machado-Joseph

Abstract: A ataxia espinocerebelar tipo 3, também conhecida como doença de Machado-Joseph, é um distúrbio neurodegenerativo autossômico dominante, provocado por uma expansão da repetição CAG que codifica a glutamina no gene ATXN3. Afeta tanto homens como mulheres, com sintomas em geral tardios, surgindo por volta da segunda década de vida e piorando com o avançar da idade. Apesar de rara, é a forma mais comum de ataxia espinocerebelar e não há evidências de terapias capazes de promover a cura. Assim, o presente estudo r… Show more

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“…This disease usually manifests between the ages of 30 and 50, and its characteristic symptoms include ataxia, abnormal eye movements, and diplopia. 1,2 The degenerative process underlying SCA3 affects the central nervous system (CNS) and/or the peripheral nervous system (PNS), including areas and pathways that are involved in motor speech and swallowing. As the disease progresses, individuals with SCA3 exhibit communication and swallowing disorders, which lead to a deterioration in quality of life (QOL).…”
Section: Introductionmentioning
confidence: 99%
“…This disease usually manifests between the ages of 30 and 50, and its characteristic symptoms include ataxia, abnormal eye movements, and diplopia. 1,2 The degenerative process underlying SCA3 affects the central nervous system (CNS) and/or the peripheral nervous system (PNS), including areas and pathways that are involved in motor speech and swallowing. As the disease progresses, individuals with SCA3 exhibit communication and swallowing disorders, which lead to a deterioration in quality of life (QOL).…”
Section: Introductionmentioning
confidence: 99%