A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease

Peter K. Panegyres, Kathrine Toufexis, B. A. Kakulas, Larisa Cernevakova, P. Brown, Bernardino Ghetti, P. Piccardo, Stephen Dlouhy

Research output: Contribution to journalArticle

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Abstract

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 Β-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.

Original languageEnglish
Pages (from-to)1899-1902
Number of pages4
JournalArchives of Neurology
Volume58
Issue number11
StatePublished - 2001

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Mutation
Codon
Dementia
Endopeptidase K
Prion Diseases
Prions
Amyloid Plaques
Valine
Ataxia
Nervous System Diseases
Glycine
Cerebellum
Western Blotting
Prion Proteins
Protein
Genes
Family History
Gene
History of Disease
Degeneration

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Panegyres, P. K., Toufexis, K., Kakulas, B. A., Cernevakova, L., Brown, P., Ghetti, B., ... Dlouhy, S. (2001). A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. Archives of Neurology, 58(11), 1899-1902.

A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. / Panegyres, Peter K.; Toufexis, Kathrine; Kakulas, B. A.; Cernevakova, Larisa; Brown, P.; Ghetti, Bernardino; Piccardo, P.; Dlouhy, Stephen.

In: Archives of Neurology, Vol. 58, No. 11, 2001, p. 1899-1902.

Research output: Contribution to journalArticle

Panegyres, PK, Toufexis, K, Kakulas, BA, Cernevakova, L, Brown, P, Ghetti, B, Piccardo, P & Dlouhy, S 2001, 'A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease', Archives of Neurology, vol. 58, no. 11, pp. 1899-1902.
Panegyres PK, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B et al. A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. Archives of Neurology. 2001;58(11):1899-1902.
Panegyres, Peter K. ; Toufexis, Kathrine ; Kakulas, B. A. ; Cernevakova, Larisa ; Brown, P. ; Ghetti, Bernardino ; Piccardo, P. ; Dlouhy, Stephen. / A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. In: Archives of Neurology. 2001 ; Vol. 58, No. 11. pp. 1899-1902.
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AU - Ghetti, Bernardino

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