title: Low serum progranulin predicts the presence of mutations: a prospective study.
abstract: Serum progranulin is decreased in frontotemporal dementia (FTD) patients with progranulin gene (PGRN) mutations. We investigate the utility of prospective serum screening as a surrogate diagnostic marker for progranulin mutations. A commercial ELISA was used to measure progranulin protein concentration in serum from 63 FTD patients and 32 normal controls, and DNA screening then performed. Four patients (2/17 behavioral variant, 2/8 corticobasal syndrome) had abnormally low progranulin levels with PGRN mutations confirmed on DNA testing. Surprisingly, elevated levels were found in 6/16 patients with progressive non-fluent aphasia, the significance of which is unclear. Serum testing is an accurate and cost effective means of predicting PGRN mutations.
authors.affiliation: Neuroscience Research Australia and the University of New South Wales, Randwick, Australia.
authors.forename: Emma C
authors.initials: EC
authors.lastname: Schofield
authors.forename: Glenda M
authors.initials: GM
authors.lastname: Halliday
authors.forename: John
authors.initials: J
authors.lastname: Kwok
authors.forename: Clement
authors.initials: C
authors.lastname: Loy
authors.forename: Kay L
authors.initials: KL
authors.lastname: Double
authors.forename: John R
authors.initials: JR
authors.lastname: Hodges
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers / Q000097:blood; D005260:Female; D057180:Frontotemporal Dementia / Q000097:blood* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000096:biosynthesis / Q000097:blood* / Q000235:genetics*; D008297:Male; D008403:Mass Screening / Q000379:methods; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011237:Predictive Value of Tests; D000077153:Progranulins; D011446:Prospective Studies
chemical_list: D015415:Biomarkers; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins