title: MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene.
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.
authors.affiliation: Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.
authors.forename: Eric M
authors.initials: EM
authors.lastname: McDade
authors.forename: Bradley F
authors.initials: BF
authors.lastname: Boeve
authors.forename: Julie A
authors.initials: JA
authors.lastname: Fields
authors.forename: Neeraj
authors.initials: N
authors.lastname: Kumar
authors.forename: Rosa
authors.initials: R
authors.lastname: Rademakers
authors.forename: Matt C
authors.initials: MC
authors.lastname: Baker
authors.forename: Bsc David S
authors.initials: BD
authors.lastname: Knopman
authors.forename: Ronald C
authors.initials: RC
authors.lastname: Petersen
authors.forename: Clifford R
authors.initials: CR
authors.lastname: Jack
authors.forename: Kejal
authors.initials: K
authors.lastname: Kantarci
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D058070:Asymptomatic Diseases; D004251:DNA Transposable Elements / Q000235:genetics*; D042241:Early Diagnosis; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010449:Peptide Mapping / Q000379:methods; D010455:Peptides / Q000235:genetics; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D066244:Proton Magnetic Resonance Spectroscopy / Q000379:methods*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D004251:DNA Transposable Elements; C512656:PRNP protein, human; D010455:Peptides; D000072002:Prion Proteins; D011328:Prions