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; S. Dlouhy; B. Ghetti

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, S. Dlouhy, B. Ghetti

Neuroscience

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47 Scopus citations

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 language	English (US)
Pages (from-to)	1127-1134
Number of pages	8
Journal	Neurology
Volume	45
Issue number	6
State	Published - Jun 1995

ASJC Scopus subject areas

Clinical Neurology

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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, 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, 45(6), 1127-1134.

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.

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title = "Gerstmann-str{\"a}ussler-scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients",

abstract = "We present two patients with Gerstmann-Str{\"a}ussler-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.",

author = "K. Young and Jones, {C. K.} and P. Piccardo and A. Lazzarini and Golbe, {L. I.} and Zimmerman, {T. R.} and Dickson, {D. W.} and McLachlan, {D. C.} and {St. George-Hyslop}, P. and A. Lennox and S. Perlman and Vinters, {H. V.} and Hodes, {M. E.} and S. Dlouhy and B. Ghetti",

year = "1995",

month = jun,

language = "English (US)",

volume = "45",

pages = "1127--1134",

journal = "Neurology",

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T1 - Gerstmann-sträussler-scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients

AU - Young, K.

AU - Jones, C. K.

AU - Piccardo, P.

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.

AU - Hodes, M. E.

AU - Dlouhy, S.

AU - Ghetti, B.

PY - 1995/6

Y1 - 1995/6

N2 - 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.

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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AN - SCOPUS:0028989819

SN - 0028-3878

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JO - Neurology

JF - Neurology

IS - 6

ER -

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

Abstract

ASJC Scopus subject areas

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