. Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. Am J Alzheimers Dis Other Demen. 2006 Aug-Sep;21(4):281-6. PubMed.

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  1. This paper adds another example for the possible presence of a loss-of-function phenotype of PS mutations. In my view, (relative) elevation of Aβ42 is a gain-of-function phenotype commonly shared by most of the mutations, although the mechanism behind it may be a kind of loss-of-function type, that is, downregulation of Aβ40 generation. The PS mutations described in this paper and elsewhere, some of which do not even produce all the AD pathologies, seem to belong to a subclass of the entire set of pathogenic PS mutations.

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