2013
DOI: 10.1590/0004-282x20130056
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Abstract: ObjectiveTo 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.MethodsThree 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… Show more

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Cited by 19 publications
(16 citation statements)
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“…Eyelid retraction is also a classic finding in SCA3 (also known as Machado-Joseph disease ); in one study, 65% of patients with SCA3 had eyelid retraction resulting in a “bulging eyes” appearance compared to less than 5% of patients with other autosomal dominant SCAs (35). Interestingly, while midbrain atrophy is the pathologic hallmark of PSP, it is rarely seen in SCA3.…”
Section: Eyelid Retractionmentioning
confidence: 99%
“…Eyelid retraction is also a classic finding in SCA3 (also known as Machado-Joseph disease ); in one study, 65% of patients with SCA3 had eyelid retraction resulting in a “bulging eyes” appearance compared to less than 5% of patients with other autosomal dominant SCAs (35). Interestingly, while midbrain atrophy is the pathologic hallmark of PSP, it is rarely seen in SCA3.…”
Section: Eyelid Retractionmentioning
confidence: 99%
“…Thus, they should value the patient's clinic, along with some neurological exams, which may guide genetic testing to specific diagnosis. 19 The life of the person with MJD, according to the participants of this research, underwent several changes, among them the termination of the marriage, the rupture of the daily coexistence with the children and the transfer of the person with MJD to the parents' house. Neurodegenerative diseases greatly affect several aspects of the person's life and their families.…”
Section: Expectations For the Future With Machadojoseph Diseasementioning
confidence: 95%
“…This neurological feature presumes a more widespread degenerative process involving the midbrain 3 . SCA patients with eyelid retraction and negative genetic test for MJD should be tested for other SCA subtypes, particularly SCA1, SCA2 and SCA10 2,3 .…”
mentioning
confidence: 97%
“…Patients with SCA, other than MJD, in special SCA1, SCA2 and SCA10, may rarely present with eyelid retraction 1,2,3 . This neurological feature presumes a more widespread degenerative process involving the midbrain 3 .…”
mentioning
confidence: 99%