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MRS in Early and Presymptomatic Carriers of a Novel Octapeptide Repeat Insertion in the Prion Protein Gene
Author(s) -
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.,
Kantarci Kejal
Publication year - 2013
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/j.1552-6569.2012.00717.x
Subject(s) - medicine , prnp , creatine , choline , ataxia , brain biopsy , mutation , gene , pathology , prion protein , genetics , biopsy , disease , biology , psychiatry
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.