Spinocerebellar Ataxia 3
Mostrando 1-12 de 41 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. Pure-Tone Hearing Thresholds and Brainstem Auditory Evoked Potentials in Sporadic Ataxia
Abstract Introduction Spinocerebellar ataxia (SCA) is part of a genetic and clinical heteroge- neous group of neurodegenerative diseases characterized by progressive cerebellar ataxia. Objective To describe the results of audiological and electrophysiological hearing evaluations in patients with sporadic ataxia (SA). Methods A retrospective cross-secti
Int. Arch. Otorhinolaryngol.. Publicado em: 2020-03
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3. 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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4. 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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5. 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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6. 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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7. 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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8. 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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9. 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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10. 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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11. 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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12. 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