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 |
|---|---|
| Pages (from-to) | 1127-1134 |
| Number of pages | 8 |
| Journal | Neurology |
| Volume | 45 |
| Issue number | 6 |
| State | Published - Jun 1995 |
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ASJC Scopus subject areas
- Neuroscience(all)
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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 journal › Article
}
TY - JOUR
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, Stephen
AU - Ghetti, Bernardino
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.
UR - http://www.scopus.com/inward/record.url?scp=0028989819&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028989819&partnerID=8YFLogxK
M3 - Article
VL - 45
SP - 1127
EP - 1134
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 6
ER -