NEW VARIANT PRION PROTEIN IN A JAPANESE FAMILY WITH GERSTMANN-STRAUSSLER SYNDROME

被引：57
作者：
FURUKAWA, H
KITAMOTO, T
TANAKA, Y
TATEISHI, J
机构：
[1] KYUSHU UNIV, FAC MED, NEUROL INST, DEPT NEUROPATHOL, FUKUOKA, JAPAN
[2] NATL CARDIOVASC CTR, DEPT MED, DIV CEREBROVASC, OSAKA, JAPAN
来源：
MOLECULAR BRAIN RESEARCH | 1995年 / 30卷 / 02期
关键词：
PRION PROTEIN; GERSTMANN-STRAUSSLER SYNDROME; CODON; 102; MUTATION; 219; POLYMORPHISM;
D O I：
10.1016/0169-328X(95)00034-P
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
We found novel variants in the open reading frame of the prion protein (PrP) gene in a family with Gerstmann-Straussler syndrome (GSS). Codon 219(Lys) variant is a normal polymorphism which we found recently. Some GSS cases were identified with codon 102 mutation (proline to leucine) and codon 219(Lys) polymorphism. While two families had a codon 102 mutation and codon 219(Lys) 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.
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页码：385 / 388
页数：4
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