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

Eric M. Mcdade, Bradley F. Boeve, Julie A. Fields, Neeraj Kumar, Rosa Rademakers, Matt C. Baker, David S. Knopman, Ronald C. Petersen, Clifford R. Jack, Kejal Kantarci

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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

Keywords

  • Familial prion disorders
  • Frontotemporal dementia
  • MRI
  • MRS

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

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