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 › peer-review

60 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

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

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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",

note = "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.",

year = "1995",

month = jun,

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

language = "English",

volume = "30",

pages = "385--388",

journal = "Molecular Brain Research",

issn = "0006-8993",

publisher = "Elsevier",

number = "2",

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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.

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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VL - 30

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JO - Molecular Brain Research

JF - Molecular Brain Research

SN - 0006-8993

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

Abstract

Keywords

ASJC Scopus subject areas

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