Mjd Sca3
Mostrando 1-12 de 23 artigos, teses e dissertações.
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1. State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change
Abstract Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment. Clinical scales used to measure SCA3/MJD progression present moderate effect sizes, a major dra
Genet. Mol. Biol.. Publicado em: 10/06/2019
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2. Lithium carbonate and coenzyme Q10 reduce cell death in a cell model of Machado-Joseph disease
Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of the polyglutamine domain of the ataxin-3 (ATX3) protein. MJD/SCA3 is the most frequent autosomal dominant ataxia in many countries. The mechanism underlying MJD/SCA3 is thought to be mainly related to protein misfold
Braz J Med Biol Res. Publicado em: 21/11/2016
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3. Editorial
Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons a
Genet. Mol. Biol.. Publicado em: 2014
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4. Magnetic resonance imaging and ICARS and SARA assessment in Machado-Joseph disease / Avaliação das escalas ICARS (International Cooperative Ataxia Rating Scale) e SARA (Scale for the Assessment of Rating Ataxia) e exames de ressonância magnética na doença de Machado-Joseph
A doença de Machado Joseph (MJD) ou ataxia espinocerebelar tipo 3 (SCA3) é uma doença autossômica dominante e é o tipo de ataxia mais comum no Brasil. Os principais sintomas são ataxia, alterações de movimentação ocular, distonia, espasticidade e disfunção piramidal e fasciculações, além de disfagia e disartria. Estes usualmente tem início na
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 31/01/2012
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5. Análise volumétrica de cerebelo e tronco cerebral de pacientes com doença de Machado Joseph
Doença de Machado-Joseph, ou ataxia espinocerebelar tipo 3 (MJD/SCA3) é ataxia espinocerebelar de início tardio mais frequente e resulta de uma expansão da repetição CAG no gene da ataxina-3. Estudos precedentes encontraram correlação entre a atrofia do cerebelo e do tronco cerebral com a idade e número de expansões CAG. Tais correlações não for
Arquivos de Neuro-Psiquiatria. Publicado em: 2011
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6. 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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7. Development of an in vitro model of expanded ataxin-3 cytotoxic effects and evaluation of different therapeutic strategies to control of these effects / Desenvolvimento de um modelo in vitro dos efeitos citotóxicos da ataxina-3 expandida e avaliação de diferentes estratégias terapêuticas para o controle desses efeitos
Spinocerebellar ataxia-3 (SCA3), also known as Machado-Joseph disease (MJD), belongs to a group of neurodegenerative disorders caused by expansion of a polyglutamine stretch, called polyglutamine diseases. MJD is the most frequent inherited autosomal dominant ataxia in many countries. Clinical manifestations are varied, including abnormal motor coordination
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 08/02/2010
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8. 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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9. 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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10. Estudo longitudinal de pacientes com doença de Machado-Joseph : correlação clinica e de neuroimagem / Longitudinal study in patients with Machado-Joseph disease : clinical and neuroimaging correlation
Machado-Joseph disease or spinocerebellar ataxia type 3 (SCA3/MJD) is an autosomal dominant ataxia resulting from an expansion of a CAG triplet at the MDJ1 gene located on chromosome 14q. Clinically, it is characterized by cerebellar ataxia, peripheral neuropathy, pyramidal and extrapyramidal syndrome and ophthalmoplegia. The age of onset is variable and inv
Publicado em: 2009
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11. O sistema nervoso periferico na doença de Machado-Joseph : aspectos clinicos e neurofisiologicos / Clinical and neurophysiological study of the peripheral nervous system um Machado-Joseph disease
Machado-Joseph disease or spinocerebellar ataxia 3 (SCA3/MJD) is the most frequent autosomal dominant ataxia in Brazil and caused by an unstable trinucleotide (CAG) repeat expansion in the 10th exon of the MJD1 gene on chromosome 14q. It is a chronic and debilitating neurologic disorder characterized by cerebellar ataxia, pyramidal dysfunction, dystonia, gaz
Publicado em: 2008
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12. 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