• Eric M McDade, Bradley F Boeve, Julie A Fields, Neeraj Kumar, Rosa Rademakers, Matt C Baker, Bsc David S Knopman, Ronald C Petersen, Clifford R Jack, and Kejal Kantarci.
• Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.
• J Neuroimaging. 2013 Jul 1; 23 (3): 409413409-13.

AbstractTo evaluate the proton magnetic resonance (MR) spectroscopy ((1) H 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, (1) H MRS from the posterior cingulate gyrus. The mutation carriers had an increased choline/creatine, P = .003 and increased myoinositol/creatine ratio, P = .003. (1) H 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 (1) H MRS in familial prion disorders.Copyright © 2012 by the American Society of Neuroimaging.

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