Article
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.
Annals of neurology - 1 May 2004
Dermaut Bart, Kumar-Singh Samir, Engelborghs Sebastian, Theuns Jessie, Rademakers Rosa, Saerens Jos, Pickut Barbara A, Peeters Karin, van den Broeck Marleen, Vennekens Krist'l, Claes Stephen, Cruts Marc, Cras Patrick, Martin Jean-Jacques, Van Broeckhoven Christine, De Deyn Peter Paul
Abstract excerpt
Familial forms of frontotemporal dementia (FTD) with tauopathy are mostly caused by mutations in the gene encoding the microtubule-associated protein tau (MAPT). However, rare forms of familial tauopathy without MAPT mutations have been reported, suggesting other tauopathy-related genetic defects. Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial...
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