biostudies-literatureCoppola GIntramural NIH HHSNIA NIH HHS92-6https://www.ebi.ac.uk/biostudies/studies/S-EPMC2773201biostudies-literatureUnknown64(1)Peripheral blood is a readily available tissue source allowing relatively noninvasive screening for a host of medical conditions. We screened total-blood progranulin (PGRN) levels in 107 patients with neurodegenerative dementias and related conditions, and 36 control subjects, and report the following findings: (1) confirmation of high progranulin expression levels in peripheral blood; (2) two subjects with reduced progranulin levels and mutations in the PGRN gene confirmed by direct sequencing; and (3) greater PGRN messenger RNA levels in patients with clinical diagnosis of Alzheimer's disease. This proof-of-principle report supports the use of gene quantification as diagnostic screen for PGRN mutations and suggests a potential role for progranulin in Alzheimer's disease.Annals of neurologyGene expression study on peripheral blood identifies progranulin mutations.PMC2773201P50 AG-0235R01 AG026251U01 AG016976P01 AG019724P01 AG019724-079004P01 AG017216R01 AG26938-01U24 AG021886Z01 AG000235R01 AG026938P50 AG016574P50 AG16574P01 AG019724-02P01 AG019724-069004Miller BLBaker MKarydas AWang QRademakers RCoppola GGeschwind DHHutton MfalseGene expression study on peripheral blood identifies progranulin mutations.Peripheral blood is a readily available tissue source allowing relatively noninvasive screening for a host of medical conditions. We screened total-blood progranulin (PGRN) levels in 107 patients with neurodegenerative dementias and related conditions, and 36 control subjects, and report the following findings: (1) confirmation of high progranulin expression levels in peripheral blood; (2) two subjects with reduced progranulin levels and mutations in the PGRN gene confirmed by direct sequencing; and (3) greater PGRN messenger RNA levels in patients with clinical diagnosis of Alzheimer's disease. This proof-of-principle report supports the use of gene quantification as diagnostic screen for PGRN mutations and suggests a potential role for progranulin in Alzheimer's disease.2008-01-01T00:00:00Z2008 Jul2024-11-19T23:49:08.995Z2019-03-27T00:26:23ZS-EPMC27732011855152410.1002/ana.21397