Leverenz JB, Fishel MA, Peskind ER, Montine TJ, Nochlin D, Steinbart E, Raskind MA, Schellenberg GD, Bird TD, Tsuang D.
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype.
Arch Neurol. 2006 Mar;63(3):370-6.
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This work is interesting in describing the difference in pathological phenptypes between PS1 and PS2 carriers. The Lewy body pathology could be a gain-of-function phenotype of PS mutations. The paper would have been more significant if the authors also included data from sporadic AD.