Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.

Christopher D StephenClaudio Melo de GusmaoSharan R SrinivasanAbby L OlsenFernando FreuaFernando KokRenata Montes Garcia BarbosaJin Yun Helen ChenBrian S ApplebyThomas PriorMatthew P Frosch Jeremy D Schmahmann

Published in: Movement disorders clinical practice (2024)

We describe a patient with GSS with a novel p.G131E mutation in the PRNP gene, presenting with a late-onset, slowly progressive phenotype, mimicking a spinocerebellar ataxia, and six additional cases with the typical P102L mutation.

Keyphrases

late onset
early onset
multiple sclerosis
case report
copy number
transcription factor