Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129

K Young; H B Clark; P Piccardo; S R Dlouhy; B Ghetti

Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129

K Young, H B Clark, P Piccardo, S R Dlouhy, B Ghetti

Royal (Dick) School of Veterinary Studies

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

Abstract

The most common mutation causing Gerstmann-Sträussler-Scheinker (GSS) disease is P102L in the prion protein. Previously, this mutation has only been found in coupling with methionine at residue 129. We describe a patient with GSS disease in whom the P102L mutation is in coupling with valine at residue 129. The clinical presentation in P102L-V129 differs greatly from that seen in P102-M129 patients.

Original language	English
Pages (from-to)	147-50
Number of pages	4
Journal	Molecular brain research
Volume	44
Issue number	1
Publication status	Published - Feb 1997

Keywords / Materials (for Non-textual outputs)

Adult
Gerstmann-Straussler-Scheinker Disease
Humans
Male
Mutation
Polymerase Chain Reaction
Prions
Valine

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@article{ff93f1e7912f4967b198426eb64d5ea6,

title = "Gerstmann-Str{\"a}ussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129",

abstract = "The most common mutation causing Gerstmann-Str{\"a}ussler-Scheinker (GSS) disease is P102L in the prion protein. Previously, this mutation has only been found in coupling with methionine at residue 129. We describe a patient with GSS disease in whom the P102L mutation is in coupling with valine at residue 129. The clinical presentation in P102L-V129 differs greatly from that seen in P102-M129 patients.",

keywords = "Adult, Gerstmann-Straussler-Scheinker Disease, Humans, Male, Mutation, Polymerase Chain Reaction, Prions, Valine",

author = "K Young and Clark, {H B} and P Piccardo and Dlouhy, {S R} and B Ghetti",

year = "1997",

month = feb,

language = "English",

volume = "44",

pages = "147--50",

journal = "Molecular brain research",

issn = "0169-328X",

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T1 - Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129

AU - Young, K

AU - Clark, H B

AU - Piccardo, P

AU - Dlouhy, S R

AU - Ghetti, B

PY - 1997/2

Y1 - 1997/2

N2 - The most common mutation causing Gerstmann-Sträussler-Scheinker (GSS) disease is P102L in the prion protein. Previously, this mutation has only been found in coupling with methionine at residue 129. We describe a patient with GSS disease in whom the P102L mutation is in coupling with valine at residue 129. The clinical presentation in P102L-V129 differs greatly from that seen in P102-M129 patients.

AB - The most common mutation causing Gerstmann-Sträussler-Scheinker (GSS) disease is P102L in the prion protein. Previously, this mutation has only been found in coupling with methionine at residue 129. We describe a patient with GSS disease in whom the P102L mutation is in coupling with valine at residue 129. The clinical presentation in P102L-V129 differs greatly from that seen in P102-M129 patients.

KW - Adult

KW - Gerstmann-Straussler-Scheinker Disease

KW - Humans

KW - Male

KW - Mutation

KW - Polymerase Chain Reaction

KW - Prions

KW - Valine

M3 - Article

C2 - 9030710

SN - 0169-328X

VL - 44

SP - 147

EP - 150

JO - Molecular brain research

JF - Molecular brain research

IS - 1

ER -

Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129

Abstract

Keywords / Materials (for Non-textual outputs)

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