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...
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Thieme Revinter Publicações
2013-07-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000700428&lng=en&tlng=en |
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| author | Adriana Moro Renato Puppi Munhoz Walter Oleschko Arruda Salmo Raskin Helio Afonso Ghizoni Teive |
| author_facet | Adriana Moro Renato Puppi Munhoz Walter Oleschko Arruda Salmo Raskin Helio Afonso Ghizoni Teive |
| author_sort | Adriana Moro |
| collection | DOAJ |
| description | 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 were assessed with neurological examination and molecular genetic testing. BE was characterized by the presence of eyelid retraction. Genetically ascertained SCA3 was detected in 167 patients, SCA10 in 68 patients, SCA2 in 20, SCA1 in 9, SCA7 in 6, and SCA6 in 3 patients. Results BE was detected in 123 patients with SCA (33.3%), namely 109 of the 167 SCA3 patients (65.3%) and in 5 of the others SCA patients (1 SCA10 patient, 2 SCA1 patients and 2 SCA2 patients). Conclusion BE was detected in the majority of patients with SCA3 (65.3%) and could be used with a clinical tool for the differential diagnosis of SCA. |
| format | Article |
| id | doaj-art-b598f1a2be154e259c19fc83e98025a3 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 2013-07-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-b598f1a2be154e259c19fc83e98025a32025-08-20T02:00:22ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272013-07-0171742843010.1590/0004-282X20130056S0004-282X2013000700428Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxiasAdriana MoroRenato Puppi MunhozWalter Oleschko ArrudaSalmo RaskinHelio Afonso Ghizoni TeiveObjective 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 were assessed with neurological examination and molecular genetic testing. BE was characterized by the presence of eyelid retraction. Genetically ascertained SCA3 was detected in 167 patients, SCA10 in 68 patients, SCA2 in 20, SCA1 in 9, SCA7 in 6, and SCA6 in 3 patients. Results BE was detected in 123 patients with SCA (33.3%), namely 109 of the 167 SCA3 patients (65.3%) and in 5 of the others SCA patients (1 SCA10 patient, 2 SCA1 patients and 2 SCA2 patients). Conclusion BE was detected in the majority of patients with SCA3 (65.3%) and could be used with a clinical tool for the differential diagnosis of SCA.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000700428&lng=en&tlng=enataxias espinocerebelaresexoftalmiadoenca de Machado-Joseph |
| spellingShingle | Adriana Moro Renato Puppi Munhoz Walter Oleschko Arruda Salmo Raskin Helio Afonso Ghizoni Teive Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias Arquivos de Neuro-Psiquiatria ataxias espinocerebelares exoftalmia doenca de Machado-Joseph |
| title | Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias |
| title_full | Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias |
| title_fullStr | Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias |
| title_full_unstemmed | Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias |
| title_short | Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias |
| title_sort | clinical relevance of bulging eyes for the differential diagnosis of spinocerebellar ataxias |
| topic | ataxias espinocerebelares exoftalmia doenca de Machado-Joseph |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000700428&lng=en&tlng=en |
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