Affiliations: [a] Neuroscience Research Australia and the University of New South Wales, Randwick, Australia | [b] Sydney School of Public Health, the University of Sydney, NSW, Australia | [c] Huntington Disease Service, Westmead Hospital, NSW, Australia
Correspondence:
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Correspondence to: Professor Glenda Halliday, Neuroscience Research Australia, Barker Street, Randwick, NSW 2031, Australia. Tel.: +61 2 9399 1174; Fax: +61 2 9399 1105; E-mail: g.halliday@neura.edu.au.
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.
