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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Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 2013-07, Vol.71 (7), p.421-422
Main Author: Pedroso, José Luiz
Format: Article
Language:English
Subjects:
Exophthalmos - diagnosis
Female
Humans
Machado-Joseph Disease - diagnosis
Male
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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).
ISSN:0004-282X
1678-4227
1678-4227
0004-282X
DOI:10.1590/0004-282X20130090