Eyelid retraction is not a pathognomonic sign of Machado-Joseph disease in the context of spinocerebellar ataxias

Abstract

We describe three patients with spinocerebellar ataxia (SCA) and marked eyelid retraction: A 33-year-old woman with ataxia, pyramidal signs and eyelid retraction; genetic test confirmed SCA1 ( Figure A). A 41-year-old man with ataxia, ophthalmoplegia, neuropathy and eyelid retraction; genetic test confirmed SCA2 ( Figure B). A 68-year-old man with ataxia, neuropathy, nystagmus and eyelid retraction; genetic test confirmed SCA3 or Machado-Joseph disease (MJD) ( Figure C).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 . 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 .

Retracción palpebral de causa neurológica: Presentación de tres pacientes, interpretación patogénica

“…7,8 . Analizaremos específicamente la patogenia de la sobreelevación palpebral de origen neurológico que, teniendo distintas causas, destacan por su frecuencia las de etiología vascular.…”