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J Neuroimaging. 2013 Jul;23(3):409-13. doi: 10.1111/j.1552-6569.2012.00717.x. Epub 2012 May 21.

MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene.

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  • 1Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.


To 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.


MRI; MRS; familial prion disorders; frontotemporal dementia

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