Gerstmann-Straussler-Scheinker syndrome

Definition

Gerstmann-Straussler-Scheinker syndrome was initially described as an autosomal dominant neurodegenerative disease with slowly progressive cerebellar ataxia and kuru-like plaques in the cerebellum, and later found to be caused by P102L (proline to leucine at codon 102) mutation of PRNP. There are now many mutations known to cause this phenotype of prion disease.

Exclusions

• Gerstmann syndrome

Index Terms