Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias
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. Methods Three hundred sixty-nine patients from 168 Brazilian families with SCA we...
| Published in: | Arquivos de Neuro-Psiquiatria |
|---|---|
| Main Authors: | Adriana Moro, Renato Puppi Munhoz, Walter Oleschko Arruda, Salmo Raskin, Helio Afonso Ghizoni Teive |
| Format: | Article |
| Language: | English |
| Published: |
Thieme Revinter Publicações
2013-07-01
|
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000700428&lng=en&tlng=en |
Similar Items
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients
by: Adriana Moro, et al.
Published: (2014-09-01)
by: Adriana Moro, et al.
Published: (2014-09-01)
Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
by: José Luiz Pedroso, et al.
Published: (2012-08-01)
by: José Luiz Pedroso, et al.
Published: (2012-08-01)
Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease
by: Bruno Carniatto Marques Garcia, et al.
by: Bruno Carniatto Marques Garcia, et al.
Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3
by: Hélio A. G. Teive, et al.
by: Hélio A. G. Teive, et al.
The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene A história da ataxia espinocerebelar tipo 10 no Brasil: as viagens de um gene
by: Hélio A.G. Teive, et al.
Published: (2007-12-01)
by: Hélio A.G. Teive, et al.
Published: (2007-12-01)
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
by: Hélio A. Ghizoni Teive, et al.
Published: (2004-03-01)
by: Hélio A. Ghizoni Teive, et al.
Published: (2004-03-01)
Spinocerebellar ataxia type 6 in Brazil Ataxia espinocerebelar tipo 6 no Brasil
by: Hélio A.G. Teive, et al.
Published: (2008-01-01)
by: Hélio A.G. Teive, et al.
Published: (2008-01-01)
Enfermagem de reabilitação à pessoa com doença de Machado Joseph: scoping review
by: Teresa Ferreira, et al.
Published: (2023-01-01)
by: Teresa Ferreira, et al.
Published: (2023-01-01)
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients Freqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros
by: Iscia Lopes-Cendesi, et al.
Published: (1997-09-01)
by: Iscia Lopes-Cendesi, et al.
Published: (1997-09-01)
Spinocerebellar ataxias Ataxias espinocerebelares
by: Hélio A.G. Teive
Published: (2009-12-01)
by: Hélio A.G. Teive
Published: (2009-12-01)
Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias
by: Marcus Vinicius Cristino de Albuquerque, et al.
Published: (2015-01-01)
by: Marcus Vinicius Cristino de Albuquerque, et al.
Published: (2015-01-01)
Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2)
by: Bianca Simone Zeigelboim, et al.
Published: (2011-10-01)
by: Bianca Simone Zeigelboim, et al.
Published: (2011-10-01)
Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study
by: Laudiane Reis Santos, et al.
by: Laudiane Reis Santos, et al.
Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection
by: Hélio Afonso Ghizoni Teive, et al.
Published: (2015-08-01)
by: Hélio Afonso Ghizoni Teive, et al.
Published: (2015-08-01)
A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III
by: Muhammad Sohail Ajmal Ghoauri, et al.
Published: (2023-12-01)
by: Muhammad Sohail Ajmal Ghoauri, et al.
Published: (2023-12-01)
Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3
by: Aline MS Farias, et al.
Published: (2019-01-01)
by: Aline MS Farias, et al.
Published: (2019-01-01)
Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3)
by: Jeannette Y. Stallworth, et al.
Published: (2022-12-01)
by: Jeannette Y. Stallworth, et al.
Published: (2022-12-01)
Pathogenetic Mechanisms Underlying Spinocerebellar Ataxia Type 3 Are Altered in Primary Oligodendrocyte Culture
by: Kristen H. Schuster, et al.
Published: (2022-08-01)
by: Kristen H. Schuster, et al.
Published: (2022-08-01)
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
by: Iscia Lopes-Cendes, et al.
Published: (1996-09-01)
by: Iscia Lopes-Cendes, et al.
Published: (1996-09-01)
Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3
by: Maria Thereza Drumond Gama, et al.
Published: (2021-01-01)
by: Maria Thereza Drumond Gama, et al.
Published: (2021-01-01)
A Novel Calpain Inhibitor Compound Has Protective Effects on a Zebrafish Model of Spinocerebellar Ataxia Type 3
by: Katherine J. Robinson, et al.
Published: (2021-09-01)
by: Katherine J. Robinson, et al.
Published: (2021-09-01)
Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function
by: Carolina Yuri P. Aizawa, et al.
Published: (2013-08-01)
by: Carolina Yuri P. Aizawa, et al.
Published: (2013-08-01)
Ataxia espinocerebelar tipo 6: relato de caso
by: Bianca Simone Zeigelboim, et al.
Published: (2014-10-01)
by: Bianca Simone Zeigelboim, et al.
Published: (2014-10-01)
Ataxias cerebelares hereditárias: do martelo ao gen Hereditary cerebellar ataxias from neurological hammer to genetics
by: Walter Oleschko Arruda, et al.
Published: (1997-09-01)
by: Walter Oleschko Arruda, et al.
Published: (1997-09-01)
Frontal ataxia: historical aspects and clinical definition
by: Patrícia Áurea Andreucci Martins Bonilha, et al.
Published: (2023-10-01)
by: Patrícia Áurea Andreucci Martins Bonilha, et al.
Published: (2023-10-01)
Machado-Joseph disease versus hereditary spastic paraplegia: case report
by: Hélio A. Ghizoni Teive, et al.
Published: (2001-09-01)
by: Hélio A. Ghizoni Teive, et al.
Published: (2001-09-01)
Sodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo
by: Maxinne Watchon, et al.
Published: (2021-08-01)
by: Maxinne Watchon, et al.
Published: (2021-08-01)
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families
by: Hélio A. G. Teive, et al.
Published: (2012-01-01)
by: Hélio A. G. Teive, et al.
Published: (2012-01-01)
The Natural History of Spinocerebellar Ataxia Type 3 in Mainland China: A 2-Year Cohort Study
by: Yun Peng, et al.
Published: (2022-07-01)
by: Yun Peng, et al.
Published: (2022-07-01)
Flow cytometry allows rapid detection of protein aggregates in cellular and zebrafish models of spinocerebellar ataxia 3
by: Katherine J. Robinson, et al.
Published: (2021-10-01)
by: Katherine J. Robinson, et al.
Published: (2021-10-01)
A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats
by: Jana Boy, et al.
Published: (2010-02-01)
by: Jana Boy, et al.
Published: (2010-02-01)
Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3
by: Chang Liu, et al.
Published: (2025-09-01)
by: Chang Liu, et al.
Published: (2025-09-01)
Research progress of miRNA and siRNA in spinocerebellar ataxia type 3
by: Feng-zhen HUANG, et al.
Published: (2013-08-01)
by: Feng-zhen HUANG, et al.
Published: (2013-08-01)
Functionality and disease severity in spinocerebellar ataxias
by: Geanison Castro da CRUZ, et al.
Published: (2022-03-01)
by: Geanison Castro da CRUZ, et al.
Published: (2022-03-01)
Spinocerebellar ataxia type 7 (SCA7): family princeps’ history, genealogy and geographical distribution Ataxia espinocerebelar do tipo 7 (AEC7): história, genealogia e distribuição geográfica da família princeps
by: Salomão da Cunha Linhares, et al.
Published: (2006-06-01)
by: Salomão da Cunha Linhares, et al.
Published: (2006-06-01)
Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals Ataxias espinocerebelares: freqüência de alelos e microsatélites em indivíduos normais e afetados
by: Aline Andrade Freund, et al.
Published: (2009-12-01)
by: Aline Andrade Freund, et al.
Published: (2009-12-01)
<i>Drosophila</i> as a Model of Unconventional Translation in Spinocerebellar Ataxia Type 3
by: Sean L. Johnson, et al.
Published: (2022-04-01)
by: Sean L. Johnson, et al.
Published: (2022-04-01)
Machado-Joseph Disease
by: J Gordon Millichap
Published: (1996-06-01)
by: J Gordon Millichap
Published: (1996-06-01)
Regional and age-dependent changes in ubiquitination in cellular and mouse models of spinocerebellar ataxia type 3
by: Haiyang Luo, et al.
Published: (2023-04-01)
by: Haiyang Luo, et al.
Published: (2023-04-01)
The evaluation of swallowing in patients with spinocerebellar ataxia and oropharyngeal dysphagia: A comparison study of videofluoroscopic and sonar doppler
by: Edna Márcia da Silva Abdulmassih, et al.
Published: (2013-01-01)
by: Edna Márcia da Silva Abdulmassih, et al.
Published: (2013-01-01)
Similar Items
-
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients
by: Adriana Moro, et al.
Published: (2014-09-01) -
Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
by: José Luiz Pedroso, et al.
Published: (2012-08-01) -
Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease
by: Bruno Carniatto Marques Garcia, et al. -
Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3
by: Hélio A. G. Teive, et al. -
The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene A história da ataxia espinocerebelar tipo 10 no Brasil: as viagens de um gene
by: Hélio A.G. Teive, et al.
Published: (2007-12-01)
