Gene expression study on peripheral blood identifies progranulin mutations

Giovanni Coppola, Anna Karyda, Rosa Rademakers, Qing Wang, Matt Baker, Mike Hutton, Bruce L. Miller, Daniel H. Geschwind

Research output: Contribution to journalArticle

75 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)92-96
Number of pages5
JournalAnnals of neurology
Issue number1
StatePublished - Jul 2008

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Coppola, G., Karyda, A., Rademakers, R., Wang, Q., Baker, M., Hutton, M., Miller, B. L., & Geschwind, D. H. (2008). Gene expression study on peripheral blood identifies progranulin mutations. Annals of neurology, 64(1), 92-96.