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.
- Familial prion disorders
- Frontotemporal dementia
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
- Clinical Neurology