title: Gerstmann-Sträussler-Scheinker syndrome masquerading as multiple sclerosis.
abstract: Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare degenerative disorder of the central nervous system that belongs to the family of human spongiform encephalopathies, or prion diseases. GSS is almost always inherited and mostly carried in an autosomal dominant pattern. Nevertheless, GSS is genetically and phenotypically heterogeneous; among the different prion diseases GSS has the longest clinical course thereby has the potential to mimic the clinical course of different neurological disorders. Here, we report of a patient with a progressive ataxic syndrome, with MRI and CSF findings suggestive of a demyelinating-inflammatory process as multiple sclerosis and the cues that prompted to a final diagnosis of GSS.
authors.affiliation: Baird MS Center, Jacobs Neurological Institute SUNY Buffalo School of Medicine and Biomedical Sciences, Buffalo, NY 14203, United States. yuvalk1@hotmail.com
authors.forename: Yuval
authors.initials: Y
authors.lastname: Karmon
authors.forename: Arielle
authors.initials: A
authors.lastname: Kurzweil
authors.forename: Eric
authors.initials: E
authors.lastname: Lindzen
authors.forename: Tomas
authors.initials: T
authors.lastname: Holmlund
authors.forename: Bianca
authors.initials: B
authors.lastname: Weinstock-Guttman
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009103:Multiple Sclerosis / Q000175:diagnosis* / Q000235:genetics*