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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.

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 FTD albeit without neuropathological confirmation. We report here a novel PS1 mutation in a patient with Pick-type tauopathy in the absence of extracellular beta-amyloid deposits. The mutation is predicted to substitute Gly-->Val at codon position 183 (Gly183Val) and to affect the splice signal at the junction of the sixth exon and intron. Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder. Our results suggest PS1 as a candidate gene for Pick-type tauopathy without MAPT mutations.[1]


  1. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Dermaut, B., Kumar-Singh, S., Engelborghs, S., Theuns, J., Rademakers, R., Saerens, J., Pickut, B.A., Peeters, K., van den Broeck, M., Vennekens, K., Claes, S., Cruts, M., Cras, P., Martin, J.J., Van Broeckhoven, C., De Deyn, P.P. Ann. Neurol. (2004) [Pubmed]
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