Oculomotor dysfunction with unremarkable neuroimaging: a diagnostic clue to Gerstmann-Sträussler-Scheinker syndrome.
Xia Ling, Yuexia Wu, Zhiying Xie et al.
✦ AI-curated · Sources linked
Case in brief
A 56-year-old woman presented with progressive gait instability, dizziness, and speech difficulties. Initial genetic screening for common spinocerebellar ataxia subtypes was negative, and neuroimaging showed no abnormalities. However, video-oculography revealed significant ocular motor dysfunction. Whole-exome sequencing identified a heterozygous mutation in the PRNP gene, confirming a diagnosis of Gerstmann-Sträussler-Scheinker syndrome.
What made this case unusual
The case highlights a distinctive oculomotor signature associated with GSS, which is not commonly recognized in typical presentations of prion diseases.
Diagnostic / clinical pearl
Clinicians should consider expanded genetic evaluation for Gerstmann-Sträussler-Scheinker syndrome when encountering unexplained oculomotor dysfunction, especially in the absence of neuroimaging findings.
Why it matters
This case underscores the importance of recognizing specific ocular motor abnormalities as potential diagnostic clues for rare genetic conditions like GSS.