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http://purl.uniprot.org/citations/11709001http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11709001http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11709001http://www.w3.org/2000/01/rdf-schema#comment"

Background

Gerstmann-Sträussler-Scheinker disease is a rare form of prion disease.

Objective

To determine the prion mutation in a 51-year-old man without a family history of neurologic disease who died from Gerstmann-Sträussler-Scheinker disease.

Patient and methods

The patient was a 51-year-old man who died after a 9-year illness characterized by dementia and eventually ataxia. Neuropathologic studies were performed, the results of which revealed abundant prion protein-immunopositive amyloid plaques in the cerebellum without spongiform degeneration.

Results

Genetic analysis of the prion protein gene showed a novel mutation at codon 131 that caused a valine-for-glycine substitution (G131V) and homozygosity at codon 129 (129M). Proteinase K-resistant prion protein was detected by Western blot analysis.

Conclusions

This is the first mutation described in the short, antiparallel beta-sheet domain of the prion protein. This report highlights the importance of genetic analysis of patients with atypical dementia even in the absence of a family history."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.org/dc/terms/identifier"doi:10.1001/archneur.58.11.1899"xsd:string
http://purl.uniprot.org/citations/11709001http://purl.org/dc/terms/identifier"doi:10.1001/archneur.58.11.1899"xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Ghetti B."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Ghetti B."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Brown P."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Brown P."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Dlouhy S.R."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Dlouhy S.R."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Panegyres P.K."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Panegyres P.K."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Kakulas B.A."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Kakulas B.A."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Cernevakova L."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Cernevakova L."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Piccardo P."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Piccardo P."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Toufexis K."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/author"Toufexis K."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/name"Arch. Neurol."xsd:string
http://purl.uniprot.org/citations/11709001http://purl.uniprot.org/core/name"Arch. Neurol."xsd:string
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