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J Alzheimers Dis. 2010;22(3):981-4. doi: 10.3233/JAD-2010-101032.

Low serum progranulin predicts the presence of mutations: a prospective study.

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Neuroscience Research Australia and the University of New South Wales, Randwick, Australia.


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.

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