Abstract
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 language | English (US) |
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Pages (from-to) | 92-96 |
Number of pages | 5 |
Journal | Annals of neurology |
Volume | 64 |
Issue number | 1 |
DOIs | |
State | Published - Jul 2008 |
ASJC Scopus subject areas
- Neurology
- Clinical Neurology