MRS in Early and Presymptomatic Carriers of a Novel Octapeptide Repeat Insertion in the Prion Protein Gene
Year: 2012
Type: article
Study design: Observational Study
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.
Source: Journal of Neuroimaging
Institutions: Mayo Clinic, University of Pittsburgh, Mayo Clinic in Florida
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
Awards: G104586243, Effects of estrogen on brain morphology and neuronal integrity in early menopause, Ethics of Surrogate Consent for Dementia Research, 1H MRS markers of MCI syndromes and common dementias, Neuropsychology of Dementia with Lewy Bodies, G1624380267, G1703321076, G2189522154, G2200173671, Pathological basis of MRS and DTI changes in neurodegenerative dementia, Alzheimers Disease Patient Registry, G3886076886, Evaluating and Extending Our Hypothetical Model of Alzheimer's Biomarkers, Progranulin: Mutation and Regulation in Neurodegenerative disease, Alzheimer's Disease Neuroimaging Initiative, G6206414941, G6659654119, The Frontotemporal Lobar Degeneration Neuroimaging Initiative, G713956800, EXTRAMURAL RESEARCH FACILITIES IMPROVEMENT PROGRAM, G8474290341, Disease pathways in the population determined by amyloid, tau, and neurodegeneration imaging biomarkers, Mayo Alzheimer's Disease Research Center
OpenAlex ID: W2156301397