Diagnosis at a first glance? "Bulging eyes" as a clue for a more accurate diagnosis in spinocerebellar ataxias
Despite so many genetic discoveries, ease for a genetic test and even exome sequencing, it is almost impossible to conduct a diagnostic approach for hereditary neurological diseases without semiotic observations. The contemplative method of Osler and clinical observation of Charcot are lessons left...
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| Published in: | Arquivos de neuro-psiquiatria Vol. 71; no. 7; pp. 421 - 422 |
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| Main Author: | |
| Format: | Journal Article |
| Language: | English |
| Published: |
Brazil
Academia Brasileira de Neurologia (ABNEURO)
01-07-2013
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| Subjects: | |
| Online Access: | Get full text |
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| Summary: | Despite so many genetic discoveries, ease for a genetic test and even exome sequencing, it is almost impossible to conduct a diagnostic approach for hereditary neurological diseases without semiotic observations. The contemplative method of Osler and clinical observation of Charcot are lessons left for our generation, which are crucial elements for clinical diagnosis super(1). In line with these comments, "bulging eyes" or Collier's sign, in the context of an autosomal dominant spinocerebellar ataxia (SCA), is a marked diagnostic clue and should promptly guide our genetic investigation for spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD). |
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| Bibliography: | SourceType-Other Sources-1 content type line 63 ObjectType-Editorial-2 ObjectType-Commentary-1 ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 |
| ISSN: | 0004-282X 1678-4227 1678-4227 0004-282X |
| DOI: | 10.1590/0004-282X20130090 |