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

Katherine Young; H. Brent Clark; Pedro Piccardo; Stephen R. Dlouhy; Bernardino Ghetti

doi:10.1016/S0169-328X(96)00251-3

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

Katherine Young, H. Brent Clark, Pedro Piccardo, Stephen R. Dlouhy, Bernardino Ghetti

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

54 Scopus citations

Abstract

The most common mutation causing Gerstmann-Straussler-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 (US)
Pages (from-to)	147-150
Number of pages	4
Journal	Molecular Brain Research
Volume	44
Issue number	1
DOIs	https://doi.org/10.1016/S0169-328X(96)00251-3
State	Published - Feb 1997
Externally published	Yes

Keywords

Amyloid
Gerstmann-Straussler-Scheinker
PRNP mutation
Prion protein
Spinal cord

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10.1016/S0169-328X(96)00251-3

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title = "Gerstmann-Straussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129",

abstract = "The most common mutation causing Gerstmann-Straussler-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 = "Amyloid, Gerstmann-Straussler-Scheinker, PRNP mutation, Prion protein, Spinal cord",

author = "Katherine Young and Clark, {H. Brent} and Pedro Piccardo and Dlouhy, {Stephen R.} and Bernardino Ghetti",

year = "1997",

month = feb,

doi = "10.1016/S0169-328X(96)00251-3",

language = "English (US)",

volume = "44",

pages = "147--150",

journal = "Molecular Brain Research",

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TY - JOUR

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

AU - Young, Katherine

AU - Clark, H. Brent

AU - Piccardo, Pedro

AU - Dlouhy, Stephen R.

AU - Ghetti, Bernardino

PY - 1997/2

Y1 - 1997/2

N2 - The most common mutation causing Gerstmann-Straussler-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-Straussler-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 - Amyloid

KW - Gerstmann-Straussler-Scheinker

KW - PRNP mutation

KW - Prion protein

KW - Spinal cord

UR - http://www.scopus.com/inward/record.url?scp=0031026861&partnerID=8YFLogxK

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U2 - 10.1016/S0169-328X(96)00251-3

DO - 10.1016/S0169-328X(96)00251-3

M3 - Article

C2 - 9030710

AN - SCOPUS:0031026861

SN - 0169-328X

VL - 44

SP - 147

EP - 150

JO - Molecular Brain Research

JF - Molecular Brain Research

IS - 1

ER -

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

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