New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome

Hisako Furukawa; Tetsuyuki Kitamoto; Yutaka Tanaka; Jun Tateishi

doi:10.1016/0169-328X(95)00034-P

New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome

Hisako Furukawa, Tetsuyuki Kitamoto, Yutaka Tanaka, Jun Tateishi

Research output: Contribution to journal › Article

56 Citations (Scopus)

Abstract

We found novel variants in the open reading frame of the priors protein (PrP) gene in a family with Gerstmann-Sträussler 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.

Original language	English
Pages (from-to)	385-388
Number of pages	4
Journal	Molecular Brain Research
Volume	30
Issue number	2
DOIs	https://doi.org/10.1016/0169-328X(95)00034-P
Publication status	Published - 1995 Jun
Externally published	Yes

Keywords

Codon 102 mutation
Codon 219 polymorphism
Gerstmann-Sträussler syndrome
Prion protein

ASJC Scopus subject areas

Molecular Biology
Cellular and Molecular Neuroscience

Access to Document

10.1016/0169-328X(95)00034-P

Fingerprint Dive into the research topics of 'New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome'. Together they form a unique fingerprint.

Cite this

Furukawa, H., Kitamoto, T., Tanaka, Y., & Tateishi, J. (1995). New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome. Molecular Brain Research, 30(2), 385-388. https://doi.org/10.1016/0169-328X(95)00034-P

@article{51c1c5511c0e454c8e05b7e87161f287,

title = "New variant prion protein in a Japanese family with Gerstmann-Str{\"a}ussler syndrome",

abstract = "We found novel variants in the open reading frame of the priors protein (PrP) gene in a family with Gerstmann-Str{\"a}ussler 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.",

keywords = "Codon 102 mutation, Codon 219 polymorphism, Gerstmann-Str{\"a}ussler syndrome, Prion protein",

author = "Hisako Furukawa and Tetsuyuki Kitamoto and Yutaka Tanaka and Jun Tateishi",

year = "1995",

month = jun,

doi = "10.1016/0169-328X(95)00034-P",

language = "English",

volume = "30",

pages = "385--388",

journal = "Brain Research",

issn = "0006-8993",

publisher = "Elsevier",

number = "2",

}

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

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

UR - http://www.scopus.com/inward/record.url?scp=0029063658&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029063658&partnerID=8YFLogxK

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 - Brain Research

JF - Brain Research

SN - 0006-8993

IS - 2

ER -