. NACP/alpha-synuclein, NAC, and beta-amyloid pathology of familial Alzheimer's disease with the E184D presenilin-1 mutation: a clinicopathological study of two autopsy cases. Acta Neuropathol. 2002 Dec;104(6):637-48. PubMed.

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  1. Surprising heterogenous phenotype from this PS1 mutation. But with only one case with the LB pathology, it is unclear whether this is a coincidence of two different processes. However, the relatively young age argues against the latter idea.

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Mutations

  1. PSEN1 E184D