Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome

L G Goldfarb; P Brown; D Goldgaber; D M Asher; R Rubenstein; W T Brown; P Piccardo; R J Kascsak; J W Boellaard; D C Gajdusek

Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome

L G Goldfarb, P Brown, D Goldgaber, D M Asher, R Rubenstein, W T Brown, P Piccardo, R J Kascsak, J W Boellaard, D C Gajdusek

Royal (Dick) School of Veterinary Studies

Research output: Contribution to journal › Article › peer-review

Abstract

We and others have recently reported that patients with the Gerstmann-Sträussler-Scheinker syndrome have a mutation at codon 102 of the gene coding for amyloid protein that accumulates in this disease. We report here that this mutation was not found in 5 familial and 27 sporadic cases of Creutzfeldt-Jakob disease or in 3 patients with kuru, so that although this mutation may be responsible for amyloidogenesis and transmissibility in Gerstmann-Sträussler-Scheinker syndrome, it cannot be the only cause of human spongiform encephalopathy.

Original language	English
Pages (from-to)	247-50
Number of pages	4
Journal	Experimental neurology
Volume	108
Issue number	3
Publication status	Published - Jun 1990

Keywords / Materials (for Non-textual outputs)

Base Sequence
Creutzfeldt-Jakob Syndrome
Humans
Kuru
Molecular Sequence Data
Mutation
Restriction Mapping
Slow Virus Diseases

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@article{69c59235139e4bc6975d497fb19d9768,

title = "Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Str{\"a}ussler-Scheinker syndrome",

abstract = "We and others have recently reported that patients with the Gerstmann-Str{\"a}ussler-Scheinker syndrome have a mutation at codon 102 of the gene coding for amyloid protein that accumulates in this disease. We report here that this mutation was not found in 5 familial and 27 sporadic cases of Creutzfeldt-Jakob disease or in 3 patients with kuru, so that although this mutation may be responsible for amyloidogenesis and transmissibility in Gerstmann-Str{\"a}ussler-Scheinker syndrome, it cannot be the only cause of human spongiform encephalopathy.",

keywords = "Base Sequence, Creutzfeldt-Jakob Syndrome, Humans, Kuru, Molecular Sequence Data, Mutation, Restriction Mapping, Slow Virus Diseases",

author = "Goldfarb, {L G} and P Brown and D Goldgaber and Asher, {D M} and R Rubenstein and Brown, {W T} and P Piccardo and Kascsak, {R J} and Boellaard, {J W} and Gajdusek, {D C}",

year = "1990",

month = jun,

language = "English",

volume = "108",

pages = "247--50",

journal = "Experimental neurology",

issn = "0014-4886",

publisher = "Academic Press",

number = "3",

}

TY - JOUR

T1 - Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome

AU - Goldfarb, L G

AU - Brown, P

AU - Goldgaber, D

AU - Asher, D M

AU - Rubenstein, R

AU - Brown, W T

AU - Piccardo, P

AU - Kascsak, R J

AU - Boellaard, J W

AU - Gajdusek, D C

PY - 1990/6

Y1 - 1990/6

N2 - We and others have recently reported that patients with the Gerstmann-Sträussler-Scheinker syndrome have a mutation at codon 102 of the gene coding for amyloid protein that accumulates in this disease. We report here that this mutation was not found in 5 familial and 27 sporadic cases of Creutzfeldt-Jakob disease or in 3 patients with kuru, so that although this mutation may be responsible for amyloidogenesis and transmissibility in Gerstmann-Sträussler-Scheinker syndrome, it cannot be the only cause of human spongiform encephalopathy.

AB - We and others have recently reported that patients with the Gerstmann-Sträussler-Scheinker syndrome have a mutation at codon 102 of the gene coding for amyloid protein that accumulates in this disease. We report here that this mutation was not found in 5 familial and 27 sporadic cases of Creutzfeldt-Jakob disease or in 3 patients with kuru, so that although this mutation may be responsible for amyloidogenesis and transmissibility in Gerstmann-Sträussler-Scheinker syndrome, it cannot be the only cause of human spongiform encephalopathy.

KW - Base Sequence

KW - Creutzfeldt-Jakob Syndrome

KW - Humans

KW - Kuru

KW - Molecular Sequence Data

KW - Mutation

KW - Restriction Mapping

KW - Slow Virus Diseases

M3 - Article

C2 - 2190844

SN - 0014-4886

VL - 108

SP - 247

EP - 250

JO - Experimental neurology

JF - Experimental neurology

IS - 3

ER -

Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome

Abstract

Keywords / Materials (for Non-textual outputs)

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