MRS in Early and Presymptomatic Carriers of a Novel Octapeptide Repeat Insertion in the Prion Protein Gene

Research output: Contribution to journalArticle

Abstract

To evaluate the proton magnetic resonance (MR) spectroscopy (1H MRS) changes in carriers of a novel octapeptide repeat insertion in the prion protein gene (PRNP) and family history of frontotemporal dementia with ataxia. Four at-risk mutation carriers and 13 controls were compared using single voxel, short TE, 1H MRS from the posterior cingulate gyrus. The mutation carriers had an increased choline/creatine, P= .003 and increased myoinositol/creatine ratio, P= .003. 1H MRS identified differences in markers of glial activity and choline metabolism in pre- and early-symptomatic carriers of a novel PRNP gene octapeptide insertion. These findings expand the possible diagnostic utility of 1H MRS in familial prion disorders.

Original languageEnglish (US)
Pages (from-to)409-413
Number of pages5
JournalJournal of Neuroimaging
Volume23
Issue number3
DOIs
StatePublished - Jul 2013

Fingerprint

Creatine
Genes
Frontotemporal Dementia
Mutation
Prions
Insertional Mutagenesis
Gyrus Cinguli
Inositol
Ataxia
Choline
Neuroglia
Prion Proteins
Proton Magnetic Resonance Spectroscopy
phosphonium choline

Keywords

  • Familial prion disorders
  • Frontotemporal dementia
  • MRI
  • MRS

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

Cite this

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title = "MRS in Early and Presymptomatic Carriers of a Novel Octapeptide Repeat Insertion in the Prion Protein Gene",
abstract = "To evaluate the proton magnetic resonance (MR) spectroscopy (1H MRS) changes in carriers of a novel octapeptide repeat insertion in the prion protein gene (PRNP) and family history of frontotemporal dementia with ataxia. Four at-risk mutation carriers and 13 controls were compared using single voxel, short TE, 1H MRS from the posterior cingulate gyrus. The mutation carriers had an increased choline/creatine, P= .003 and increased myoinositol/creatine ratio, P= .003. 1H MRS identified differences in markers of glial activity and choline metabolism in pre- and early-symptomatic carriers of a novel PRNP gene octapeptide insertion. These findings expand the possible diagnostic utility of 1H MRS in familial prion disorders.",
keywords = "Familial prion disorders, Frontotemporal dementia, MRI, MRS",
author = "Mcdade, {Eric M.} and Boeve, {Bradley F} and Fields, {Julie A} and Neeraj Kumar and Rademakers, {Rosa V} and Baker, {Matt C.} and Knopman, {David S} and Petersen, {Ronald Carl} and Jack, {Clifford R Jr.} and Kantarci, {Kejal M}",
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AU - Mcdade, Eric M.

AU - Boeve, Bradley F

AU - Fields, Julie A

AU - Kumar, Neeraj

AU - Rademakers, Rosa V

AU - Baker, Matt C.

AU - Knopman, David S

AU - Petersen, Ronald Carl

AU - Jack, Clifford R Jr.

AU - Kantarci, Kejal M

PY - 2013/7

Y1 - 2013/7

N2 - To evaluate the proton magnetic resonance (MR) spectroscopy (1H MRS) changes in carriers of a novel octapeptide repeat insertion in the prion protein gene (PRNP) and family history of frontotemporal dementia with ataxia. Four at-risk mutation carriers and 13 controls were compared using single voxel, short TE, 1H MRS from the posterior cingulate gyrus. The mutation carriers had an increased choline/creatine, P= .003 and increased myoinositol/creatine ratio, P= .003. 1H MRS identified differences in markers of glial activity and choline metabolism in pre- and early-symptomatic carriers of a novel PRNP gene octapeptide insertion. These findings expand the possible diagnostic utility of 1H MRS in familial prion disorders.

AB - To evaluate the proton magnetic resonance (MR) spectroscopy (1H MRS) changes in carriers of a novel octapeptide repeat insertion in the prion protein gene (PRNP) and family history of frontotemporal dementia with ataxia. Four at-risk mutation carriers and 13 controls were compared using single voxel, short TE, 1H MRS from the posterior cingulate gyrus. The mutation carriers had an increased choline/creatine, P= .003 and increased myoinositol/creatine ratio, P= .003. 1H MRS identified differences in markers of glial activity and choline metabolism in pre- and early-symptomatic carriers of a novel PRNP gene octapeptide insertion. These findings expand the possible diagnostic utility of 1H MRS in familial prion disorders.

KW - Familial prion disorders

KW - Frontotemporal dementia

KW - MRI

KW - MRS

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