Document Detail


MRS in Early and Presymptomatic Carriers of a Novel Octapeptide Repeat Insertion in the Prion Protein Gene.
MedLine Citation:
PMID:  22612156     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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:
Eric M McDade; Bradley F Boeve; Julie A Fields; Neeraj Kumar; Rosa Rademakers; Matt C Baker; Bsc David S Knopman; Ronald C Petersen; Clifford R Jack; Kejal Kantarci
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-5-21
Journal Detail:
Title:  Journal of neuroimaging : official journal of the American Society of Neuroimaging     Volume:  -     ISSN:  1552-6569     ISO Abbreviation:  -     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-5-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9102705     Medline TA:  J Neuroimaging     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 by the American Society of Neuroimaging.
Affiliation:
From the Department of Neurology, University of Pittsburgh, Pittsburgh, PA (EMM); Department of Neurology (BFB, NK, DSK, RCP); Department of Radiology (CRJ, KK); Department of Psychology (JAF) Mayo Clinic, Rochester, MN; and Department of Neurology, Mayo Clinic, Jacksonville, FL (RR, MCB).
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