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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\u2010type tauopathy in the absence of extracellular \u03b2\u2010amyloid deposits. The mutation is predicted to substitute Gly\u2192Val at codon position 183 (Gly183Val) and to affect the splice signal at the junction of the sixth exon and intron. Further clinical\u2010genetic investigation showed a positive family history of FTD\u2010like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder. Our results suggest PS1 as a candidate gene for Pick\u2010type tauopathy without MAPT mutations.<\/jats:p>","DOI":"10.1002\/ana.20083","type":"journal-article","created":{"date-parts":[[2004,4,26]],"date-time":"2004-04-26T18:01:20Z","timestamp":1083002480000},"page":"617-626","source":"Crossref","is-referenced-by-count":174,"title":["A novel presenilin 1 mutation associated with Pick's disease but not \u03b2\u2010amyloid 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