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Title
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A novel presenilin 1 mutation associated with Pick's disease but not β-amyloid plaques
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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Annals of neurology. - Boston, Mass.
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Publication
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Boston, Mass.
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2004
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ISSN
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0364-5134
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DOI
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10.1002/ANA.20083
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Volume/pages
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55
:5
(2004)
, p. 617-626
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ISI
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000221115800004
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Full text (Publisher's DOI)
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