Spinocerebellar Ataxias
Mostrando 1-12 de 23 artigos, teses e dissertações.
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1. Functionality and disease severity in spinocerebellar ataxias
RESUMO Antecedentes: As ataxias espinocerebelares (SCA) são um grupo de doenças neurodegenerativas caracterizadas pela deterioração do equilíbrio e da funcionalidade, que tende a acompanhar a progressão da doença. Não existe uma ligação estabelecida entre os marcadores clínicos formais de gravidade e escores funcionais e de equilíbrio que possa
Arquivos de Neuro-Psiquiatria. Publicado em: 2022
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2. Role of non-coding RNAs in non-aging-related neurological disorders
Protein coding sequences represent only 2% of the human genome. Recent advances have demonstrated that a significant portion of the genome is actively transcribed as non-coding RNA molecules. These non-coding RNAs are emerging as key players in the regulation of biological processes, and act as "fine-tuners" of gene expression. Neurological disorders are cau
Braz J Med Biol Res. Publicado em: 11/06/2018
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3. Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS: We studied 150
Clinics. Publicado em: 2012
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4. Occupational therapy in spinocerebellar ataxia type 3: an open-label trial
Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical rehabilitation of progressive genetic neurodegenerative diseases such as spinocerebellar ataxias; however, its effects have never been determi
Publicado em: 2011
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5. Occupational therapy in spinocerebellar ataxia type 3: an open-label trial
Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical rehabilitation of progressive genetic neurodegenerative diseases such as spinocerebellar ataxias; however, its effects have never been determi
Brazilian Journal of Medical and Biological Research. Publicado em: 16/04/2010
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6. Machado-Joseph disease enhances genetic fitness : a comparison between affected and unaffected women and between MJD and the general population
Background: Machado-Joseph disease (MJD SCA3), a spinocerebellar ataxia related to expansion of a CAG tract, has already been related to anticipation and meiotic drift. However, fitness of MJD carriers has been little studied. Objective: To analyze genetic fitness of MJD patients, comparing them to their unaffected relatives and to the general population (GP
Publicado em: 2010
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7. Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia and seizures. The disease is caused by a large ATTCT repeat expansion in the ATXN10 gene. The first families reported with SCA10 were of Mexican origin, but the disease was soon after described in Brazilian families of mixed Portuguese
Publicado em: 2010
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8. Disartria e doença de Machado-Joseph : relato de caso / Dysarthria in Machado-Joseph disease: case report
O objetivo deste estudo foi descrever os principais aspectos fonoaudiológicos relacionados à fala na doença de Machado-Joseph, em um indivíduo do sexo masculino, selecionado entre outros pacientes portadores desta doença com limitações significativas de fala. O paciente foi atendido no Setor de Fonoaudiologia do Serviço de Fisiatria do Hospital de Cl
Publicado em: 2010
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9. Contribuição para a caracterização clínica das ataxias hereditárias autossômicas recessivas / Contribution to clinical characterization of autosomal recessive hereditary ataxias
As ataxias hereditárias autossômicas recessivas compõem um grupo de doenças heterogêneas, que necessitam de criteriosa avaliação clínica, de exames complementares e, algumas vezes, de testes genéticos para o diagnóstico. A partir da revisão da literatura, foi elaborado um algoritmo para auxiliar a investigação diagnóstica deste grupo. Esta tese
Publicado em: 2009
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10. Análise molecular e clínica das ataxias espinocerebelares
As ataxias espinocerebelares dominantes (SCAs), do inglês spinocerebellar ataxia, são um complexo grupo de doenças neurodegenerativas que afetam o cerebelo e suas principais conexões. O início das SCAs ocorre geralmente na vida adulta apresentando grande heterogeneidade clínica. Os sintomas normalmente aparecem da terceira a quarta década de vida com
Publicado em: 2007
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11. O perfil psicossocial do usuario do teste preditivo para a doença de Huntington e as ataxias espinocerebelares / The psychological profile of predictive test users for Huntington s disease and spinocerebellar ataxias
Recent advances in molecular genetics have made it possible to detect specific genetic alterations that are responsible for several diseases, even before the individual presents any symptoms. Hence, genetic tests such as the diagnostic test (DT) to confirm diagnosis and the predictive test (PT) or presymptomatic test can be performed. This study deals with t
Publicado em: 2006
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12. Aspectos moleculares das ataxias espinocerebelares autossomicas recessivas
The spinocerebellar ataxia form a group of neurodegenerative disorders with clínical heterogeneity. They are characterized by cerebelIar dysfunction with progressive ataxia, incoordenation and dysarthria. Familial cases show variable pattem of inheritance: autossomal dominant (AD) or autossomal recessive (AR). To date, thereare four loci described for the s
Publicado em: 2000