TY - JOUR
T1 - New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome
AU - Furukawa, Hisako
AU - Kitamoto, Tetsuyuki
AU - Tanaka, Yutaka
AU - Tateishi, Jun
N1 - Funding Information:
We thank Prof. Herbert Budka for providingt he samplesW. e also thank M. Yoneda and K. Hatanaka for technicaal ssistantT. his study was supportedb y a grant( T.K.) from the Sciencea nd TechnologAy gency, Grant-in-Aidf or ScientificR esearch(T .K., J.T.) and a Grant-in-Aidf or ScientificR esearcho n priority Area (J.T.) from the Ministry of Education Science and Culture,a nd a grant( J.T.) from the Ministry of Health and Welfare,J apan.
Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.
PY - 1995/6
Y1 - 1995/6
N2 - We found novel variants in the open reading frame of the priors protein (PrP) gene in a family with Gerstmann-Sträussler syndrome (GSS). Codon 219Lys variant is a normal polymorphism which we found recently. Some GSS cases were identified with codon 102 mutation (proline to leucine) and Codon 219Lys polymorphism. While two families had a Codon 102 mutation and codon 219Lys polymorphism in different alleles, 4 patients in one family had both in the same allele. The clinicopathological features of these 4 patients were clearly different from previously reported GSS patients with Codon 102 mutation. These cases should be reported as a new variant of GSS.
AB - We found novel variants in the open reading frame of the priors protein (PrP) gene in a family with Gerstmann-Sträussler syndrome (GSS). Codon 219Lys variant is a normal polymorphism which we found recently. Some GSS cases were identified with codon 102 mutation (proline to leucine) and Codon 219Lys polymorphism. While two families had a Codon 102 mutation and codon 219Lys polymorphism in different alleles, 4 patients in one family had both in the same allele. The clinicopathological features of these 4 patients were clearly different from previously reported GSS patients with Codon 102 mutation. These cases should be reported as a new variant of GSS.
KW - Codon 102 mutation
KW - Codon 219 polymorphism
KW - Gerstmann-Sträussler syndrome
KW - Prion protein
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U2 - 10.1016/0169-328X(95)00034-P
DO - 10.1016/0169-328X(95)00034-P
M3 - Article
C2 - 7637591
AN - SCOPUS:0029063658
VL - 30
SP - 385
EP - 388
JO - Molecular Brain Research
JF - Molecular Brain Research
SN - 0006-8993
IS - 2
ER -