Title: A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques
Authors: Dermaut, Bart
Kumar-Singh, S
Engelborghs, S
Theuns, J
Rademakers, R
Sacrens, J
Pickut, BA
Peeters, K
van den Broeck, M
Vennekens, K
Claes, Stephan
Cruts, M
Cras, P
Martin, JJ
Van Broeckhoven, C
De Deyn, PP #
Issue Date: May-2004
Publisher: Wiley-liss
Series Title: Annals of neurology vol:55 issue:5 pages:617-626
Abstract: 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 I (PSI) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation. We report here a novel PSI 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 PSI as a candidate gene for Pick-type tauopathy without MAPT mutations.
ISSN: 0364-5134
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Psychiatry
# (joint) last author

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