Article
Brain magnetic resonance imaging structural changes in a pedigree of asymptomatic progranulin mutation carriers.
Rejuvenation research - 1 Jun 2008
Borroni B, Alberici A, Premi E, Archetti S, Garibotto V, Agosti C, Gasparotti R, Di Luca M, Perani D, Padovani A
Abstract excerpt
Mutations in the progranulin (PGRN) gene have been recently demonstrated as a cause of frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal inclusion (FTD-U). Neuropathologic, clinical, and neuroimaging features associated with PGRN mutations have been carefully described. No studies on asymptomatic subjects carrying pathogenetic PGRN mutations are available yet. These would be crucial...
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