Gerstmann-sträussler-scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients

K. Young, C. K. Jones, P. Piccardo, A. Lazzarini, L. I. Golbe, T. R. Zimmerman, D. W. Dickson, D. C. McLachlan, P. St. George-Hyslop, A. Lennox, S. Perlman, H. V. Vinters, M. E. Hodes, Stephen Dlouhy, Bernardino Ghetti

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Abstract

We present two patients with Gerstmann-Sträussler-Scheinker disease (GSS), one from a previously undescribed kindred and one from the Canadian branch of a previously reported British kindred. In both patients, GSS is caused by a substitution of thymine for cytosine at codon 102 of the prion protein gene (PRNP). In each patient, we confirmed the clinical diagnosis by neuropathologic examination. The mutation, causing a substitution of leucine for proline at residue 102 (P102L) of the prion protein, has been previously reported in at least 30 other families. In the patients described here, the mutation was in coupling with methionine at PRNP codon 129.

Original languageEnglish
Pages (from-to)1127-1134
Number of pages8
JournalNeurology
Volume45
Issue number6
StatePublished - Jun 1995

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Codon
Methionine
Mutation
Genes
Thymine
Cytosine
Proline
Leucine
Prion Proteins

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Young, K., Jones, C. K., Piccardo, P., Lazzarini, A., Golbe, L. I., Zimmerman, T. R., ... Ghetti, B. (1995). Gerstmann-sträussler-scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. Neurology, 45(6), 1127-1134.

Gerstmann-sträussler-scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. / Young, K.; Jones, C. K.; Piccardo, P.; Lazzarini, A.; Golbe, L. I.; Zimmerman, T. R.; Dickson, D. W.; McLachlan, D. C.; St. George-Hyslop, P.; Lennox, A.; Perlman, S.; Vinters, H. V.; Hodes, M. E.; Dlouhy, Stephen; Ghetti, Bernardino.

In: Neurology, Vol. 45, No. 6, 06.1995, p. 1127-1134.

Research output: Contribution to journalArticle

Young, K, Jones, CK, Piccardo, P, Lazzarini, A, Golbe, LI, Zimmerman, TR, Dickson, DW, McLachlan, DC, St. George-Hyslop, P, Lennox, A, Perlman, S, Vinters, HV, Hodes, ME, Dlouhy, S & Ghetti, B 1995, 'Gerstmann-sträussler-scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients', Neurology, vol. 45, no. 6, pp. 1127-1134.
Young K, Jones CK, Piccardo P, Lazzarini A, Golbe LI, Zimmerman TR et al. Gerstmann-sträussler-scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. Neurology. 1995 Jun;45(6):1127-1134.
Young, K. ; Jones, C. K. ; Piccardo, P. ; Lazzarini, A. ; Golbe, L. I. ; Zimmerman, T. R. ; Dickson, D. W. ; McLachlan, D. C. ; St. George-Hyslop, P. ; Lennox, A. ; Perlman, S. ; Vinters, H. V. ; Hodes, M. E. ; Dlouhy, Stephen ; Ghetti, Bernardino. / Gerstmann-sträussler-scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. In: Neurology. 1995 ; Vol. 45, No. 6. pp. 1127-1134.
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AU - Lazzarini, A.

AU - Golbe, L. I.

AU - Zimmerman, T. R.

AU - Dickson, D. W.

AU - McLachlan, D. C.

AU - St. George-Hyslop, P.

AU - Lennox, A.

AU - Perlman, S.

AU - Vinters, H. V.

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AU - Dlouhy, Stephen

AU - Ghetti, Bernardino

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AB - We present two patients with Gerstmann-Sträussler-Scheinker disease (GSS), one from a previously undescribed kindred and one from the Canadian branch of a previously reported British kindred. In both patients, GSS is caused by a substitution of thymine for cytosine at codon 102 of the prion protein gene (PRNP). In each patient, we confirmed the clinical diagnosis by neuropathologic examination. The mutation, causing a substitution of leucine for proline at residue 102 (P102L) of the prion protein, has been previously reported in at least 30 other families. In the patients described here, the mutation was in coupling with methionine at PRNP codon 129.

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