Article
Clinicopathologic correlation in PGRN mutations.
Neurology - 11 Sept 2007
Davion S, Johnson N, Weintraub S, Mesulam M-M, Engberg A, Mishra M, Baker M, Adamson J, Hutton M, Rademakers R, Bigio E H
Abstract excerpt
BACKGROUND: Frontotemporal dementia (FTD) has been linked to the microtubule associated protein tau (MAPT) gene region of chromosome 17. However, many chromosome-17 linked FTLDs do not have MAPT mutations or tau protein deposits, but have ubiquitin positive, tau and alpha-synuclein negative inclusions. Mutations in the progranulin (PGRN) gene, located 1.7 Mb from MAPT at 17q21.31, were recently discovered in some...
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