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- Title
MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene.
- Authors
McDade, Eric M; Boeve, Bradley F; Fields, Julie A; Kumar, Neeraj; Rademakers, Rosa; Baker, Matt C; Knopman, Bsc David S; Petersen, Ronald C; Jack, Clifford R, Jr; Kantarci, Kejal
- Abstract
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.
- Publication
Journal of neuroimaging : official journal of the American Society of Neuroimaging, 2013, Vol 23, Issue 3, p409
- ISSN
1552-6569
- Publication type
Journal Article
- DOI
10.1111/j.1552-6569.2012.00717.x