Results 1 to 10 of about 3,314 (74)

Spinocerebellar ataxias Ataxias espinocerebelares [PDF]

Arquivos de Neuro-Psiquiatria, 2009
Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders,
Hélio A.G. Teive
doaj   +2 more sources

Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals Ataxias espinocerebelares: freqüência de alelos e microsatélites em indivíduos normais e afetados

Arquivos de Neuro-Psiquiatria, 2009
The diagnosis and incidence of spinocerebelar ataxias (SCA) is sometimes difficult to analyze due the overlap of phenotypes subtypes and are disorders of mutations caused by CAG trinucleotide repeat expansion.
Aline Andrade Freund, Rosana Hermínia Scola, Hélio A.G. Teive, Raquel Cristina Arndt, Magda Clara Vieira da Costa-Ribeiro, Lupe Furtado Alle, Lineu Cesar Werneck   +6 more
doaj   +2 more sources

Aplicação simultânea de estimulação transcraniana por corrente contínua cerebelar anódica para reabilitação do equilíbrio na ataxia cerebelar: relato de caso

Revista Pesquisa em Fisioterapia, 2021
INTRODUÇÃO: As ataxias cerebelares são um extenso grupo de doenças, que causam diversos distúrbios na marcha e no equilíbrio que comprometem seriamente a qualidade de vida, sem opções de tratamento eficazes.
Mariana Sacchi Mendonça, Juliana Barbosa Goulardins, Carolina de Oliveira Souza, Katia Monte- Silva, Clarice Tanaka   +4 more
doaj   +1 more source

Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia

Arquivos de Neuro-Psiquiatria, 2012
Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease.
José Luiz Pedroso, Pedro Braga-Neto, João Radvany, Orlando Graziani Povoas Barsottini   +3 more
doaj   +1 more source

Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias

Arquivos de Neuro-Psiquiatria, 2013
Objective To investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA.
Adriana Moro, Renato Puppi Munhoz, Walter Oleschko Arruda, Salmo Raskin, Helio Afonso Ghizoni Teive   +4 more
doaj   +1 more source

Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function

Arquivos de Neuro-Psiquiatria, 2013
OBJECTIVES: To assess balance and ability to function in patients with spinocerebellar ataxia. METHODS: A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3 ...
Carolina Yuri P. Aizawa, Jose Luiz Pedroso, Pedro Braga-Neto, Marilia Rezende Callegari, Orlando Graziani Povoas Barsottini   +4 more
doaj   +1 more source

A família Drew de Walworth: um século após a avaliação inicial finalmente o diagnóstico doença de Machado-Joseph The Drew family of Walworth: one century from the first evaluation until the final diagnosis, Machado-Joseph disease

Arquivos de Neuro-Psiquiatria, 2004
As enfermidades heredo-degenerativas, entre elas as ataxias cerebelares autossômicas dominantes, agora conhecidas como ataxias espinocerebelares (AEC), correspondem a extenso grupo de s com grande heterogeneidade genética.
Hélio A. Ghizoni Teive, Walter Oleschko Arruda   +1 more
doaj   +1 more source

Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias

Arquivos de Neuro-Psiquiatria, 2015
The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion ...
Marcus Vinicius Cristino de Albuquerque, José Luiz Pedroso, Pedro Braga Neto, Orlando Graziani Povoas Barsottini   +3 more
doaj   +1 more source

Disartria e doença de Machado-Joseph: relato de caso Dysarthria in Machado-Joseph disease: case report

Revista da Sociedade Brasileira de Fonoaudiologia, 2007
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 ...
Angela Ruviaro Busanello, Simone Augusta Finard de Nisa e Castro, Alberto Augusto Alves Rosa   +2 more
doaj   +1 more source

Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1 Características clínicas e moleculares de uma família Brasileira com ataxia espinocerebelar tipo 1

Arquivos de Neuro-Psiquiatria, 1996
The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of late onset neurodegenerative disorders. To date, seven different genes causing autosomal dominant SCA have been mapped: SCA1, SCA2, Machado-Joseph disease (MJD ...
Iscia Lopes-Cendes, Carlos E. Steiner, Isabel Silveira, Walter Pinto-Junior, Jayme A. Maciel, Guy A. Rouleau   +5 more
doaj   +1 more source