| Name: | Description: | Size: | Format: | |
|---|---|---|---|---|
| 2.49 MB | Adobe PDF |
Authors
Abstract(s)
A Doença de Machado-Joseph, ou ataxia espinocerebelosa tipo 3, é uma doença neurodegenerativa autossómica dominante, com uma expressão clínica e idade de início variáveis, o que torna o diagnóstico difícil e raramente precoce.
A doença de Machado-Joseph, afeta maioritariamente descendentes de Açorianos, e está dispersa a nível mundial.
Esta dissertação parte da investigação alargada da literatura científica acerca da Doença de Machado-Joseph e do relato de um caso clínico exemplificativo da clínica da doença, revendo e salientando as novas descobertas nas caraterísticas clínicas, genéticas e patogenia da doença. São, também, referidas as terapias atuais e, possivelmente, futuras para os doentes com Doença de Machado-Joseph.
The Machado-Joseph disease, also known as spinocerebellar ataxia type 3 is an autosomal dominant neurodegenerative disorder, with a clinical expression and age of onset variable, which makes the diagnosis difficult and rarely early. The Machado-Joseph disease, affects mostly the descendants of Azorean, and is spread all over the world. This dissertation consists in an extended investigation of the scientific literature about the Machado-Joseph disease and reports a clinical case example of the disease, reviewing and highlighting new findings on the clinical features, genetics and pathogenesis of the disease. They are also referred current therapies, and possibly future, for patients with MachadoJoseph disease.
The Machado-Joseph disease, also known as spinocerebellar ataxia type 3 is an autosomal dominant neurodegenerative disorder, with a clinical expression and age of onset variable, which makes the diagnosis difficult and rarely early. The Machado-Joseph disease, affects mostly the descendants of Azorean, and is spread all over the world. This dissertation consists in an extended investigation of the scientific literature about the Machado-Joseph disease and reports a clinical case example of the disease, reviewing and highlighting new findings on the clinical features, genetics and pathogenesis of the disease. They are also referred current therapies, and possibly future, for patients with MachadoJoseph disease.
Description
Keywords
Doença de Machado-Joseph Doença de Machado-Joseph - Diagnóstico Doença de Machado-Joseph - Tratamento Doença de Machado-Joseph - Evolução clínica Ataxia espinocerebelosa - Histopatologia Ataxia espinocerebelosa tipo 3
Citation
Publisher
Universidade da Beira Interior