Gerstmann-Straussler-Scheinker Disease With F198S Mutation Diagnosis on Repeat Genetic Testing: A Case Report.

Authors

Andrea Medina Garcia, Wendy Yang, Chase Kingsbury, Lindsey Evans, Theresa A Zesiewicz

Published in

Cureus. Volume 18. Issue 7. Pages e112851. Epub Jul 17, 2026.

Abstract

Gerstmann-Straussler-Scheinker (GSS) disease is a rare hereditary autosomal dominant prion disease characterized by cerebellar ataxia, dysarthria, and progressive dementia. We report a case of GSS disease in a 46-year-old patient who presented with four to six months of ataxia, dysarthria, intermittent tongue biting, and frontal headaches. His DaTscan (dopamine transporter scan) showed absent dopamine uptake in the left putamen and mildly decreased activity in the right putamen, a finding that has only been documented in the literature one other time for this GSS variant. Family history included the death of his father at age 58 from presumed multiple system atrophy (MSA). His symptoms and family history of parkinsonism prompted genetic testing, which revealed a F198S variant in the prion protein gene (PRNP), confirming a diagnosis of GSS disease.

PMID:
42605331
Bibliographic data and abstract were imported from PubMed on 17 Aug 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.